PatientsMap: Target Disease List
PatientsMap covers approximately 1,000 diseases, ranging from common to rare conditions, across four major markets (Japan, the US, China, and the UK). Below is the complete list of diseases currently covered in our database.
Note: Survey items and the availability of physician background data may vary depending on the product. Please use your browser's search function to find a specific disease.
| No. | Disease name |
|---|---|
| 1 | Gastroesophageal reflux disease (GERD) / Nonerosive reflux disease (NERD) |
| 2 | ┗ Specifically; Nonerosive reflux disease (NERD) only |
| 3 | Gastritis and duodenitis |
| 4 | Peptic ulcer |
| 5 | Functional dyspepsia (FD) |
| 6 | Gastroparesis |
| 7 | Dumping syndrome |
| 8 | Dysphagia |
| 9 | Inflammatory bowel disease (IBD) |
| 10 | ┗ Specifically; Ulcerative colitis |
| 11 | ┗ Specifically; Crohn's disease |
| 12 | Irritable bowel syndrome (IBS) |
| 13 | ┗ Specifically; Constipation-predominant IBS (IBS-C) |
| 14 | ┗ Specifically; Diarrhea-predominant IBS (IBS-D) |
| 15 | ┗ Specifically; IBS-mixed |
| 16 | Microscopic colitis |
| 17 | Constipation |
| 18 | ┗ Specifically; Chronic constipation |
| 19 | ┗ Specifically; Opioid induced constipation |
| 20 | Fecal incontinence |
| 21 | ┗ Specifically; mixed fecal incontinence |
| 22 | ┗ Specifically; urge fecal incontinence |
| 23 | ┗ Specifically; passive fecal incontinence |
| 24 | Short bowel syndrome |
| 25 | Hemorrhoids |
| 26 | Anal fissure |
| 27 | Anal fistula |
| 28 | Chronic hepatitis B |
| 29 | Chronic hepatitis C |
| 30 | Cirrhosis |
| 31 | ┗ Specifically; Compensated cirrhosis due to hepatitis B virus |
| 32 | ┗ Specifically; Compensated cirrhosis due to hepatitis C virus |
| 33 | Non-alcoholic fatty liver disease (NAFLD / a.k.a MASLD) |
| 34 | ┗ Specifically; Non-alcoholic steatohepatitis (NASH / a.k.a MASH) |
| 35 | Alcoholic liver disease |
| 36 | Liver fibrosis |
| 37 | Acute Liver Failure |
| 38 | Autoimmune hepatitis |
| 39 | Drug-induced liver injury (DILI) |
| 40 | Pruritus associated with liver disease |
| 41 | Primary biliary cholangitis |
| 42 | ┗ Specifically; Pruritus associated with primary biliary cholangitis |
| 43 | Primary sclerosing cholangitis |
| 44 | Pancreatitis |
| 45 | ┗ Specifically; Acute pancreatitis |
| 46 | ┗ Specifically; Hereditary pancreatitis |
| 47 | Pancreatic fistula |
| 48 | Food allergy |
| 49 | ┗ Specifically; Milk, wheat or egg allergy |
| 50 | ┗ Specifically; Peanut allergy |
| 51 | Eosinophilic gastrointestinal disorder |
| 52 | ┗ Specifically; Eosinophilic esophagitis |
| 53 | ┗ Specifically; Eosinophilic gastritis |
| 54 | ┗ Specifically; Eosinophilic duodenitis |
| 55 | ┗ Specifically; Eosinophilic gastroenteritis |
| 56 | Celiac disease |
| 57 | Peutz-Jeghers syndrome |
| 58 | Juvenile polyposis syndrome |
| 59 | Cowden syndrome (Multiple hamartoma syndrome) |
| 60 | Acute enteritis |
| 61 | Intra-abdominal infections |
| 62 | Rotavirus gastroenteritis |
| 63 | Rotavirus gastroenteritis (in the past 1 year) |
| 64 | Norovirus gastroenteritis / infections (in the past year) |
| 65 | Stomatitis associated with cancer (oral mucositis) |
| 66 | Cyclic vomiting syndrome (CVS) |
| 67 | Undernutrition |
| 68 | Hypertension |
| 69 | ┗ Specifically; Pediatric hypertension |
| 70 | Pulmonary hypertension |
| 71 | ┗ Specifically; Pulmonary arterial hypertension |
| 72 | ┗ Specifically; Pediatric pulmonary arterial hypertension |
| 73 | ┗ Specifically; Chronic thromboembolic pulmonary hypertension |
| 74 | ┗ Specifically; Isolated post-capillary PH (Ipc-PH) |
| 75 | ┗ Specifically; Combined post-capillary and precapillary PH (Cpc-PH) |
| 76 | ┗ Specifically; Group III pulmonary hypertension (due to lung disease and/or hypoxemia) |
| 77 | ┗ Specifically; PH-ILD of Group III pulmonary hypertension (due to lung disease and/or hypoxemia) |
| 78 | Stable coronary artery disease (SCAD) |
| 79 | Angina pectoris |
| 80 | Stable angina |
| 81 | Unstable angina |
| 82 | Acute coronary syndrome (ACS) |
| 83 | Myocardial infarction (MI) |
| 84 | ┗ Specifically; Acute myocardial infarction (AMI) |
| 85 | ┗ Specifically; ST-segment Elevation MI (STEMI) |
| 86 | ┗ Specifically; Non-ST-Segment Elevation MI (NSTEMI) |
| 87 | ┗ Specifically; Old myocardial infarction (OMI) |
| 88 | Acute heart failure |
| 89 | Congestive heart failure |
| 90 | ┗ Specifically; Heart failure with preserved LVEF (left ventricular ejection fraction) (HFpEF) |
| 91 | ┗ Specifically; Heart failure with mildly reduced LVEF (left ventricular ejection fraction) (HFmrEF) |
| 92 | ┗ Specifically; Heart failure with reduced LVEF (left ventricular ejection fraction) (HFrEF) |
| 93 | Heart failure with preserved ejection fraction |
| 94 | Cardiac edema |
| 95 | Cardiomyopathy |
| 96 | Hypertrophic cardiomyopathy |
| 97 | ┗ Specifically; Non-obstructive hypertrophic cardiomyopathy |
| 98 | ┗ Specifically; Obstructive hypertrophic cardiomyopathy |
| 99 | Valvular disease of the heart |
| 100 | ┗ Specifically; Aortic stenosis |
| 101 | ┗ Specifically; Mitral insufficiency |
| 102 | ┗ Specifically; Tricuspid insufficiency |
| 103 | Infective endocarditis |
| 104 | Tachyarrhythmia |
| 105 | Bradyarrhythmia |
| 106 | Inherited arrhythmia |
| 107 | Atrial fibrillation |
| 108 | ┗ Specifically; non-valvular atrial fibrillation (NVAF) |
| 109 | ATIS / Atherosclerosis |
| 110 | Peripheral Arterial Disease (PAD) |
| 111 | Arteriosclerosis obliterans (ASO) |
| 112 | Arteriosclerosis obliterans (ASO) / Peripheral arterial disease (PAD) |
| 113 | Intermittent claudication |
| 114 | Deep-vein thrombosis (DVT) |
| 115 | Pulmonary embolism (PE) |
| 116 | Postoperative venous thromboembolism |
| 117 | Portal vein thrombosis |
| 118 | Pulmonary veno-occlusive disease |
| 119 | Venous leg ulcer |
| 120 | Kawasaki disease |
| 121 | IgA vasculitis (Henoch-Schölein purpura) |
| 122 | Cryoglobulinemic vasculitis |
| 123 | Functionally univentricular heart disease |
| 124 | ┗ Specifically; Pulmonary veno-occlusive disease with ventricular septal defect |
| 125 | Hepatic edema |
| 126 | Diabetes |
| 127 | ┗ Specifically; Type I diabetes |
| 128 | ┗ Specifically; Type II diabetes |
| 129 | Diabetic neuropathy |
| 130 | ┗ Specifically; Diabetic neuropathic pain |
| 131 | Diabetic peripheral neuropathy (DPN) |
| 132 | Diabetic nephropathy |
| 133 | ┗ Specifically; Diabetic early nephropathy |
| 134 | ┗ Specifically; Diabetic overt nephropathy |
| 135 | Diabetes with peripheral circulatory disorders |
| 136 | Dyslipidemia (Hyperlipidemia) |
| 137 | ┗ Specifically; Hypertriglyceridemia |
| 138 | Familial Hypercholesterolemia - Heterozygous |
| 139 | Familial Hypercholesterolemia (Homozygous) |
| 140 | Gout / Hyperuricemia |
| 141 | Obesity |
| 142 | ┗ Specifically; Hypothalamic obesity |
| 143 | ┗ Specifically; Obesity induced by antipsychotic |
| 144 | Adult growth hormone (GH) deficiency |
| 145 | Growth hormone deficiency (GHD) |
| 146 | Growth hormone insensitivity (GHI) |
| 147 | Acromegaly |
| 148 | Hyperthyroidism |
| 149 | ┗ Specifically; Graves' disease |
| 150 | ┗ Specifically; Toxic multinodular goitre |
| 151 | Adrenocorticotropic hormone insensitivity |
| 152 | Hypoparathyroidism |
| 153 | ┗ Specifically; Autosomal Dominant Hypocalcemia (ADH) |
| 154 | Pseudohypoparathyroidism |
| 155 | Hyperphosphatemia |
| 156 | Low blood sugar |
| 157 | Hypophosphatasia |
| 158 | Vitamin D deficiency |
| 159 | ┗ Specifically; Vitamin D-deficiency rickets |
| 160 | Phenylketonuria |
| 161 | Menkes disease |
| 162 | Anemia |
| 163 | Iron deficiency anemia |
| 164 | Aplastic anemia |
| 165 | Autoimmune hemolytic anemia |
| 166 | ┗ Specifically; Warm antibody hemolytic anemia |
| 167 | ┗ Specifically; Cold agglutinin disease |
| 168 | Paroxysmal nocturnal hemoglobinuria |
| 169 | Glucose-6-phosphate dehydrogenase (G6PD) deficiency |
| 170 | ┗ Specifically; Class I glucose-6-phosphate dehydrogenase (G6PD) deficiency |
| 171 | Thalassemia |
| 172 | β thalassemia |
| 173 | Neutropenia |
| 174 | Febrile neutropenia |
| 175 | Low / agammaglobulinemia, severe infection |
| 176 | AIDS / HIV carrier |
| 177 | Sepsis |
| 178 | Blood coagulation factor VIII deficiency |
| 179 | Hemophilia A |
| 180 | ┗ Specifically; Inhibitors |
| 181 | ┗ Specifically; Acquired hemophilia A |
| 182 | Hemophilia B |
| 183 | ┗ Specifically; Inhibitors |
| 184 | von Willebrand Disease |
| 185 | Thrombocytopenia |
| 186 | Paediatric idiopathic thrombocytopenic purpura |
| 187 | Immune thrombocytopenia (ITP) |
| 188 | ┗ Specifically; Chronic immune thrombocytopenia (cITP) |
| 189 | Thrombotic thrombocytopenic purpura (TTP) |
| 190 | HUS |
| 191 | ┗ Specifically; Atypical hemolytic uremic syndrome |
| 192 | Disseminated intravascular coagulation (DIC) |
| 193 | Myeloproliferative syndrome |
| 194 | Myelofibrosis |
| 195 | Idiopathic myelofibrosis |
| 196 | Blastic plasmacytoid dendritic cell neoplasm (BPDCN) |
| 197 | Hemophagocytic lymphohistiocytosis |
| 198 | Hematopoietic stem cell transplantation |
| 199 | Graft versus host disease (GVHD) |
| 200 | ┗ Specifically; Acute GVHD |
| 201 | ┗ Specifically; Chronic GVHD |
| 202 | Hypoalbuminemia |
| 203 | Bronchial asthma |
| 204 | ┗ Specifically; Adult bronchial asthma |
| 205 | ┗ Specifically; Childhood bronchial asthma |
| 206 | ┗ Specifically; Non-eosinophilic asthma |
| 207 | Eosinophilic asthma |
| 208 | Intractable asthma |
| 209 | Chronic coughing |
| 210 | COPD |
| 211 | Chronic bronchitis |
| 212 | Bronchiectasis |
| 213 | ┗ Specifically; Non-cystic fibrosis bronchiectasis (NCFB) |
| 214 | Tracheal Stenosis |
| 215 | ┗ Specifically; Congenital tracheal stenosis / Congenital subglottic stenosis (Congenital tracheal stenosis) |
| 216 | Interstitial pneumonia |
| 217 | ┗ Specifically; Pulmonary fibrosis |
| 218 | Progressive fibrosing interstitial lung disease (PF-ILD) |
| 219 | Idiopathic pulmonary fibrosis |
| 220 | Pneumoconiosis |
| 221 | Pulmonary alveolar proteinosis (autoimmune or hereditary) |
| 222 | ┗ Specifically; Autoimmune pulmonary alveolar proteinosis |
| 223 | Lymphangioleiomyomatosis (LAM) |
| 224 | Acute respiratory failure |
| 225 | ┗ Specifically; Acute respiratory distress syndrome (ARDS) |
| 226 | Newborn respiratory distress syndrome |
| 227 | Acute upper respiratory tract infection |
| 228 | Acute lower respiratory tract infection |
| 229 | Pneumonia |
| 230 | ┗ Specifically; Community-acquired pneumonia |
| 231 | ┗ Specifically; Community acquired bacterial pneumonia |
| 232 | Community acquired pneumonia (not caused by COVID-19) |
| 233 | ┗ Specifically; Nosocomial pneumonia |
| 234 | Hospital acquired pneumonia (not caused by COVID-19) |
| 235 | ┗ Specifically; Nursing and healthcare-associated pneumonia (NHCAP) |
| 236 | Tuberculosis |
| 237 | Pulmonary tuberculosis |
| 238 | Extrapulmonary tuberculosis |
| 239 | Non-tuberculous mycobacterial infections |
| 240 | Coronavirus disease 2019 (COVID-19) |
| 241 | ┗ Specifically; Pneumonia caused by coronavirus disease 2019 (COVID-19) |
| 242 | Coronavirus disease 2019 (COVID-19)(in the past year) |
| 243 | ┗ Specifically; Pneumonia caused by coronavirus disease 2019 (COVID-19) (in the past year) |
| 244 | Influenza (in the past year) |
| 245 | RS virus (in the past year) |
| 246 | MRSA infection |
| 247 | Multidrug resistant gram-negative bacterial infection |
| 248 | Pseudomonas aeruginosa infection |
| 249 | Carbapenem-resistant bacterial infection |
| 250 | Clostridium difficile infection |
| 251 | Cryptosporidiosis |
| 252 | Candidiasis |
| 253 | Measles, Rubella |
| 254 | Hand, foot and mouth disease |
| 255 | Cytomegalovirus infection |
| 256 | Tick-borne encephalitis |
| 257 | Dengue Fever (in the past year) |
| 258 | Zika fever (in the past year) |
| 259 | Cerebral hemorrhage (incl. subarachnoid hemorrhage) |
| 260 | Transient ischemic attack |
| 261 | Cerebral infarction |
| 262 | ┗ Specifically; Atherothrombotic brain infarction |
| 263 | ┗ Specifically; Lacunar infarction |
| 264 | ┗ Specifically; Cardioembolic stroke |
| 265 | ┗ Specifically; Non-cardioembolic stroke |
| 266 | ┗ Specifically; Acute cerebral thrombosis |
| 267 | ┗ Specifically; Embolic Stroke of Undetermined Sources (ESUS) |
| 268 | CADASIL(Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarct and Leukoencephalopathy |
| 269 | Brain edema |
| 270 | Traumatic brain damage |
| 271 | ┗ Specifically; Traumatic brain damage with epilepsy |
| 272 | ┗ Specifically; Traumatic brain damage with drug-resistant epilepsy |
| 273 | ┗ Specifically; Apathy due to traumatic brain damage |
| 274 | Mild cognitive impairment (MCI) |
| 275 | Dementia |
| 276 | ┗ Specifically; Alzheimer's disease |
| 277 | ┗ Specifically; Hallucinations and delusions due to Alzheimer's disease |
| 278 | ┗ Specifically; Agitation associated with Alzheimer's dementia |
| 279 | ┗ Specifically; Apathy due to Alzheimer's disease |
| 280 | BPSD (behavioral and psychological symptoms of dementia) associated with Alzheimer's disease |
| 281 | ┗ Specifically; Vascular dementia |
| 282 | ┗ Specifically; Dementia with Lewy bodies (DLB) |
| 283 | ┗ Specifically; Hallucinations and delusions due to demetia with Lewy bodies |
| 284 | ┗ Specifically; Frontotemporal dementia |
| 285 | Parkinson disease |
| 286 | ┗ Specifically; Wearing-off |
| 287 | ┗ Specifically; Hallucination/Delusion associated with Parkinson disease |
| 288 | ┗ Specifically; Parkinson disease with GBA mutations |
| 289 | Spinocerebellar degeneration |
| 290 | Drug induced dyskinesia / Tardive dyskinesia |
| 291 | ┗ Specifically; Levodopa-induced dyskinesia |
| 292 | Epilepsy |
| 293 | ┗ Specifically; Pediatric epilepsy |
| 294 | ┗ Specifically; Epilepticus |
| 295 | ┗ Specifically; KCNT1-related epilepsy |
| 296 | Headache |
| 297 | Migraine |
| 298 | ┗ Specifically; Cluster headache |
| 299 | Dizziness |
| 300 | Multiple sclerosis |
| 301 | ┗ Specifically; Relapsing-remitting multiple sclerosis |
| 302 | ┗ Specifically; Primary progressive multiple sclerosis |
| 303 | ┗ Specifically; Secondary progressive multiple sclerosis |
| 304 | Neuromyelitis Optica (NMO) |
| 305 | Autoimmune encephalitis (AIE) |
| 306 | Autoimmune encephalitis |
| 307 | Idiopathic normal pressure hydrocephalus (iNPH) |
| 308 | Secondary normal pressure hydrocephalus (sNPH) |
| 309 | Infantile hydrocepharlus |
| 310 | Other hydrocepharlus |
| 311 | Hepatic encephalopathy |
| 312 | Myasthenia gravis |
| 313 | ┗ Specifically; Generalized myasthenia gravis (gMG) |
| 314 | Neuromuscular disorder and myopathy |
| 315 | Neuropathy (non-diabetic) |
| 316 | Spasmodic torticollis |
| 317 | Neuropathic pain |
| 318 | Trigeminal neuralgia |
| 319 | Postherpetic neuralgia (PHN) |
| 320 | Fibromyalgia |
| 321 | Down syndrome |
| 322 | X-linked lissencephaly |
| 323 | Holoprosencephaly |
| 324 | STXBP1 encephalopathy |
| 325 | CDKL5-deficiency disorder |
| 326 | SLC6A1-related neurodevelopmental disorder |
| 327 | Pitt-Hopkins syndrome |
| 328 | Tourette's syndrome |
| 329 | Batten disease |
| 330 | Neuronal ceroid lipofuscinosis (NCL) |
| 331 | ┗ Specifically; Neuronal ceroid lipofuscinosis type 1 |
| 332 | Autonomic imbalance |
| 333 | Postural orthostatic tachycardia syndrome (POTS) |
| 334 | Restless legs syndrome (RLS) |
| 335 | Congenital central hypoventilation syndrome |
| 336 | Obesity Hypoventilation Syndrome (OHS) |
| 337 | Schizophrenia |
| 338 | ┗ Specifically; Treatment resistant schizophrenia |
| 339 | Depression |
| 340 | ┗ Specifically; Major depression |
| 341 | ┗ Specifically; Dysthymia |
| 342 | ┗ Specifically; Treatment-resistant depression |
| 343 | ┗ Specifically; Psychotic depression |
| 344 | ┗ Specifically; Anhedonia associated with depression |
| 345 | Mania |
| 346 | Bipolar disorder |
| 347 | ┗ Specifically; Bipolar disorder type 1 |
| 348 | ┗ Specifically; Bipolar disorder type 2 |
| 349 | Anxiety disorder |
| 350 | ┗ Specifically; Generalized Anxiety Disorder (GAD) |
| 351 | ┗ Specifically; Social Anxiety Disorder (SAD) |
| 352 | ┗ Specifically; Panic Disorder (PD) |
| 353 | ┗ Specifically; Obsessive-Compulsive Disorder (OCD) |
| 354 | ┗ Specifically; Posttraumatic Stress Disorder (PTSD) |
| 355 | Autism spectrum disorder (ASD) |
| 356 | ┗ Specifically; Autism |
| 357 | ┗ Specifically; Adults with autism |
| 358 | ┗ Specifically; Autism spectrum disorder with restricted and repetitive behaviors |
| 359 | ┗ Specifically; Autism spectrum disorder with social communication impairment |
| 360 | ┗ Specifically; Autism spectrum disorder with hyperesthesia |
| 361 | Attention deficit hyperactivity disorder (ADHD) |
| 362 | Pediatric ADHD |
| 363 | Adult ADHD |
| 364 | Learning Disabilities |
| 365 | ┗ Specifically; Adults with learning disabilities |
| 366 | SYNGAP1-related intellectual disability (ID) |
| 367 | Sleep disorder |
| 368 | ┗ Specifically; Insomnia |
| 369 | ┗ Specifically; Nocturnal enuresis |
| 370 | ┗ Specifically; Circadian rhythm sleep disorder |
| 371 | ┗ Specifically; Idiopathic hypersomnia |
| 372 | ┗ Specifically; Narcolepsy |
| 373 | ┗ Specifically; Narcolepsy type 1 |
| 374 | ┗ Specifically; Type 2 narcolepsy |
| 375 | Alcohol dependence |
| 376 | Drug dependence |
| 377 | ┗ Specifically; Opioid addiction |
| 378 | Gambling addiction |
| 379 | Eating disorder |
| 380 | ┗ Specifically; Bulimia nervosa |
| 381 | ┗ Specifically; Anorexia nervosa |
| 382 | Delirium |
| 383 | ┗ Specifically; Post-operative delirium |
| 384 | Pseudobulbar affect |
| 385 | Chronic fatigue syndrome |
| 386 | Brain tumors (all kinds including glioma) |
| 387 | ┗ Specifically; Malignant glioma |
| 388 | ┗ Specifically; Glioblastoma |
| 389 | primary central nervous system lymphoma (PCNSL) |
| 390 | Medulloblastoma |
| 391 | Head and neck cancer |
| 392 | ┗ Specifically; Oral cancer |
| 393 | ┗ Specifically; Nasopharyngeal cancer |
| 394 | ┗ Specifically; Oropharyngeal cancer |
| 395 | ┗ Specifically; Hypopharyngeal cancer |
| 396 | ┗ Specifically; Laryngeal cancer |
| 397 | ┗ Specifically; Paranasal sinus and nasal cavity cancer |
| 398 | Thyroid cancer |
| 399 | Small cell lung cancer (SCLC) |
| 400 | Non-small cell lung cancer (NSCLC) |
| 401 | ┗ Specifically; Squamous cell carcinoma |
| 402 | ┗ Specifically; EGFR-positive NSCLC |
| 403 | ┗ Specifically; ALK-positive NSCLC |
| 404 | ┗ Specifically; ROS-1 positive |
| 405 | ┗ Specifically; BRAF -positive |
| 406 | ┗ Specifically; c-MET-positive |
| 407 | Mesothelioma |
| 408 | Pleura malignant mesothelioma |
| 409 | Esophageal cancer |
| 410 | Stomach (gastric) cancer |
| 411 | ┗ Specifically; HER2-positive stomach cancer |
| 412 | ┗ Specifically; Stage 4 Stomach (gastric) cancer |
| 413 | Stomach MALT lymphoma |
| 414 | Gastrointestinal stromal tumor (GIST) |
| 415 | Neuroendocrine tumor (NET) |
| 416 | ┗ Specifically; Neuroendocrine tumors of the gastrointestinal tract |
| 417 | ┗ Specifically; Pancreatic neuroendocrine tumor |
| 418 | Colon cancer |
| 419 | Rectum cancer |
| 420 | Hepatocellular carcinoma |
| 421 | Bile duct carcinoma |
| 422 | Intrahepatic cholangiocarcinoma |
| 423 | Cholangiocellular carcinoma (CCC) |
| 424 | ┗ Specifically; Gallbladder cancer |
| 425 | ┗ Specifically; Papillary carcinoma |
| 426 | Pancreatic cancer |
| 427 | Breast cancer |
| 428 | ┗ Specifically; HER2-positive breast cancer |
| 429 | ┗ Specifically; HR-positive HER2-negative breast cancer |
| 430 | ┗ Specifically; Triple-negative breast cancer |
| 431 | ┗ Specifically; Premenopausal breast cancer |
| 432 | ┗ Specifically; Stage 4 Breast cancer |
| 433 | Germ cell tumor |
| 434 | Prostate cancer |
| 435 | ┗ Specifically; Metastatic hormone-sensitive prostate cancer |
| 436 | ┗ Specifically; Castration-resistant prostate cancer |
| 437 | ┗ Specifically; Metastatic castration-resistant prostate cancer |
| 438 | Renal cell carcinoma |
| 439 | Bladder cancer |
| 440 | ┗ Specifically; Urothelial cancer |
| 441 | Malignant melanoma |
| 442 | ┗ Specifically; Malignant melanoma with BRAF V600 mutations |
| 443 | Basal cell carcinoma (BCC) |
| 444 | Non-melanoma skin cancer |
| 445 | Sarcoma |
| 446 | Soft tissue sarcoma |
| 447 | ┗ Specifically; Synovial sarcoma |
| 448 | Rhabdomyosarcoma |
| 449 | Leiomyosarcoma |
| 450 | ┗ Specifically; Osteosarcoma |
| 451 | Giant cell tumor of bone |
| 452 | Neuroblastoma |
| 453 | Wilms Tumor / nephroblastoma (pediatric kidney cancer) |
| 454 | Hepatoblastoma |
| 455 | Malignant rhabdoid tumor |
| 456 | Acute leukemia |
| 457 | Acute myeloid leukemia (AML) |
| 458 | ┗ Specifically; AML with myelodysplasia-related changes (AML-MRC) |
| 459 | ┗ Specifically; Secondary AML |
| 460 | Acute lymphoblastic leukemia (ALL) |
| 461 | Chronic leukemia |
| 462 | Chronic myeloid Leukemia (CML) |
| 463 | Chronic lymphocytic leukemia (CLL) |
| 464 | ┗ Specifically; B-cell chronic lymphocytic leukemia (B-CLL) |
| 465 | Juvenile myelomonocytic leukemia |
| 466 | Myelodysplastic syndrome |
| 467 | Myelodysplastic syndrom |
| 468 | Polycythemia vera (PV) |
| 469 | Essential thrombocythemia |
| 470 | Chronic myelomonocytic leukemia (CMML) |
| 471 | Secondary myelofibrosis |
| 472 | Hodgkin's lymphoma |
| 473 | Non-Hodgkin's lymphoma |
| 474 | B-cell Non-Hodgkin's lymphomas |
| 475 | ┗ Specifically; Diffuse large B-cell lymphoma |
| 476 | ┗ Specifically; Follicular lymphoma |
| 477 | ┗ Specifically; Mantle cell lymphoma (MCL) |
| 478 | T-cell Non-Hodgkin's lymphomas |
| 479 | ┗ Specifically; T-cell Chronic lymphocytic leukemia(CLL) |
| 480 | ┗ Specifically; Systemic anaplastic large cell lymphoma(sALCL) |
| 481 | ┗ Specifically; Cutaneous T-cell lymphoma(CTCL) |
| 482 | ┗ Specifically; Peripheral T-cell lymphoma(PTCL) |
| 483 | ┗ Specifically; Progressive non-Hodgkin's lymphoma |
| 484 | Multiple myeloma (MM) |
| 485 | Aggressive systemic mastocytosis |
| 486 | NTRK fusion-positive advanced/recurrent solid cancer |
| 487 | Angiogenesis |
| 488 | Cases of bone metastasis |
| 489 | Tumor lysis syndrome |
| 490 | Cachexia |
| 491 | ┗ Specifically; Cancer cachexia |
| 492 | Carcinomatous anemia |
| 493 | Cancerous skin ulcer |
| 494 | Chemotherapy-induced peripheral neuropathy (CIPN) |
| 495 | Cancer pain |
| 496 | ┗ Specifically; Breakthrough pain |
| 497 | ┗ Specifically; Bone metastasis pain |
| 498 | Rheumatoid arthritis |
| 499 | ┗ Specifically; Juvenile idiopathic arthritis (juvenile rheumatoid arthritis) |
| 500 | Idiopathic arthritis |
| 501 | Spondylarthritis |
| 502 | Axial spondyloarthritis (axSpA) |
| 503 | ┗ Specifically; Ankylosing spondylitis |
| 504 | Palmoplantar pustulosis associated with osteroarthritis |
| 505 | Polymyalgia rheumatica |
| 506 | Osteoarthritis |
| 507 | ┗ Specifically; Knee osteoarthritis |
| 508 | ┗ Specifically; Hip osteoarthritis |
| 509 | ┗ Specifically; Shoulder osteoarthritis |
| 510 | Spondylosis |
| 511 | Low back pain |
| 512 | Lumbar (intervertebral) disc disorder |
| 513 | Degenerative intervertebral discs |
| 514 | Lumbar disc herniation |
| 515 | Cervical disc hernia |
| 516 | Lumbar spinal stenosis |
| 517 | Osteoporosis |
| 518 | ┗ Specifically; Steroid-induced osteoporosis |
| 519 | Vertebral fracture |
| 520 | Proximal femur fracture |
| 521 | Aseptic necrosis of the femoral head |
| 522 | ┗ Specifically; Idiopathic necrosis of the femoral head |
| 523 | Scoliosis |
| 524 | Spinal scoliosis |
| 525 | ┗ Specifically; Congenital scoliosis with rib deformities |
| 526 | Achondroplasia |
| 527 | Osteochondral defect |
| 528 | Myositis |
| 529 | Disuse muscle atrophy |
| 530 | Sarcopenia (age-related) |
| 531 | ┗ Specifically; Sarcopenic obesity |
| 532 | ┗ Specifically; Sarcopenia after hip fracture |
| 533 | Upper and lower limb spasticity |
| 534 | Torticollis |
| 535 | Amyotrophic lateral sclerosis (ALS) |
| 536 | ┗ Specifically; Amyotrophic lateral sclerosis (ALS) with FUS mutations |
| 537 | Spinal cord injury |
| 538 | ┗ Specifically; Acute and subacute spinal cord injury |
| 539 | Sciatica |
| 540 | Shoulder periarthritis |
| 541 | Shoulder-Hand syndrome |
| 542 | Carpal tunnel syndrome |
| 543 | Enthesopathy |
| 544 | Dupuytren's contracture |
| 545 | Tenosynovial giant cell tumor / Pigmented villonodular synovitis |
| 546 | Chronic pain |
| 547 | Dysmenorrhea |
| 548 | Menstrual disorder |
| 549 | Hypermenorrhea |
| 550 | Dysfunctional uterine bleeding |
| 551 | Menopausal symptoms |
| 552 | Post-menopausal vaginal atrophy (Atrophic vaginitis) |
| 553 | Female Hypoactive Sexual Desire Disorder |
| 554 | Uterine fibroids |
| 555 | Endometriosis |
| 556 | Endometrial hyperplasia |
| 557 | Polycystic ovarian syndrome (PCOS) |
| 558 | Cervical Intraepithelial Neoplasia |
| 559 | ┗ Specifically; Mild dysplasia (CIN 1) |
| 560 | ┗ Specifically; Moderate dysplasia (CIN 2) |
| 561 | Female infertility |
| 562 | Recurrent pregnancy loss |
| 563 | Toxemia of pregnancy |
| 564 | Cervical cancer |
| 565 | Endometrial cancer |
| 566 | ┗ Specifically; Uterine serous scarcinoma |
| 567 | Ovarian cancer |
| 568 | Chronic glomerulonephritis |
| 569 | IgA nephropathy |
| 570 | C3 glomerulopathy |
| 571 | Membranous nephropathy |
| 572 | Focal segmental glomerulosclerosis |
| 573 | Dense deposit glomerulonephritis |
| 574 | Primary membranoproliferative glomerulonephritis |
| 575 | Rapidly progressive glomerulonephritis |
| 576 | ┗ Specifically; ANCA-associated glomerulonephritis |
| 577 | Anti-Glomerular Basement Membrane Antibody (Goodpasture's disease) |
| 578 | Nephrosclerosis |
| 579 | Nephrotic syndrome |
| 580 | ┗ Specifically; Primary nephrotic syndrome |
| 581 | ┗ Specifically; Refractory nephrotic syndrome |
| 582 | ┗ Specifically; Childhood idiopathic nephrotic syndrome |
| 583 | ┗ Specifically; Childhood-onset nephrotic syndrome |
| 584 | Chronic kidney disease (CKD) |
| 585 | Nephrogenic anemia |
| 586 | Uremia |
| 587 | Acute kidney injury (AKI) |
| 588 | ┗ Specifically; Vascular surgery associated AKI |
| 589 | Chronic renal failure (with dialysis) |
| 590 | ┗ Specifically; Hyperphosphatemia |
| 591 | ┗ Specifically; Hyperkalemia |
| 592 | ┗ Specifically; Nephrogenic anemia |
| 593 | ┗ Specifically; Hyperparathyroidism |
| 594 | ┗ Specifically; Acidosis in dialysis patients |
| 595 | ┗ Specifically; Pruritus |
| 596 | ┗ Specifically; Iron deficiency anemia |
| 597 | ┗ Specifically; Vitamin D deficiency |
| 598 | Chronic renal failure (with peritoneal dialysis) |
| 599 | Chronic renal failure (without dialysis) |
| 600 | ┗ Specifically; Hyperphosphatemia |
| 601 | ┗ Specifically; Hyperkalemia |
| 602 | ┗ Specifically; Nephrogenic anemia |
| 603 | ┗ Specifically; Hyperparathyroidism |
| 604 | ┗ Specifically; Iron deficiency anemia |
| 605 | ┗ Specifically; Vitamin D deficiency |
| 606 | Kidney transplantation |
| 607 | ┗ Specifically; Delayed graft function |
| 608 | Autosomal dominant polycystic kidney disease (ADPKD) |
| 609 | Autosomal recessive polycystic kidney disease (ARPKD) |
| 610 | Autosomal dominant tubulointerstitial kidney disease (ADTKD) |
| 611 | Alport syndrome |
| 612 | Nephronophthisis |
| 613 | Cystinuria |
| 614 | Congenital nephrogenic diabetes insipidus |
| 615 | Benign prostatic hyperplasia (BPH) |
| 616 | ┗ Specifically; Dysuria associated with benign prostatic hypertrophy (BPH) |
| 617 | Overactive bladder (OAB) |
| 618 | Underactive bladder (UAB) |
| 619 | Neurogenic Bladder (NB) |
| 620 | Nocturia |
| 621 | Urinary incontinence |
| 622 | Stress incontinence |
| 623 | Kidney stone |
| 624 | Ureteral Calculi |
| 625 | Urinary tract infection |
| 626 | ┗ Specifically; Complicated urinary tract infection |
| 627 | Pyelonephritis |
| 628 | Cystitis |
| 629 | Urethritis |
| 630 | Chronic prostatitis |
| 631 | Genital herpes |
| 632 | Chlamydial infection |
| 633 | Interstitial cystitis / Bladder pain syndrome |
| 634 | ┗ Specifically; Interstitial cystitis |
| 635 | ┗ Specifically; Interstitial Cystitis (with Hunner lesions) |
| 636 | Erectile dysfunction (ED) |
| 637 | Premature ejaculation (PE) |
| 638 | Peyronie's disease |
| 639 | Late-onset hypogonadism |
| 640 | Diabetic retinopathy |
| 641 | Diabetic macular edema |
| 642 | Age-related macular degeneration (AMD) |
| 643 | ┗ Specifically; Exudative age-related macular degeneration |
| 644 | ┗ Specifically; Dry (atrophic) age-related macular degeneration |
| 645 | Central retinal vein occlusion (CRVO) |
| 646 | Branch retinal vein occlusion (BRVO) |
| 647 | Central retinal artery occlusion (CRAO) |
| 648 | Branch retinal artery occlusion (BRAO) |
| 649 | Myopic choroidal neovascularization (mCNV) |
| 650 | Inherited retinal dystrophy (IRD) |
| 651 | Retinitis pigmentosa |
| 652 | Stargardt disease |
| 653 | Angoid streaks (AS) |
| 654 | Leber congenital amaurosis (LCA) |
| 655 | ┗ Specifically; LCA type 1 (Leber congenital amaurosis type 1, GUCY2D gene mutatation) |
| 656 | ┗ Specifically; LCA type 2 (Leber congenital amaurosis type 1, RPE65 gene mutation) |
| 657 | Retinopathy of prematurity |
| 658 | Retinoblastoma |
| 659 | Dry eye |
| 660 | Corneal epithelium disorder |
| 661 | Persistent Ectocornea Defect (PED) |
| 662 | Diabetic keratopathy |
| 663 | Conjunctivitis |
| 664 | Allergic conjunctivitis |
| 665 | Infectious conjunctivitis |
| 666 | Bacterial conjunctivitis |
| 667 | Viral conjunctivitis |
| 668 | External Ocular Infections |
| 669 | Granular corneal dystrophy type 2 |
| 670 | Blepharitis |
| 671 | Chalazion |
| 672 | Meibomian gland dysfunction (MGD) |
| 673 | Ptosis of eyelid |
| 674 | Blepharospasm |
| 675 | Ocular hypertension |
| 676 | Glaucoma |
| 677 | Cataract |
| 678 | Uveitis |
| 679 | ┗ Specifically; Non-infectious uveitis |
| 680 | ┗ Specifically; Macular edema associated with non-infectious uveitis |
| 681 | Traumatic optic nerve injury |
| 682 | Leber's hereditary optic neuropathy |
| 683 | Thyroid eye disease |
| 684 | ┗ Specifically; Active thyroid eye disease |
| 685 | Oculocutaneous albinism |
| 686 | Marfan's syndrome |
| 687 | Hypoacusis (hearing loss) |
| 688 | ┗ Specifically; Non-Syndromic Deafness |
| 689 | ┗ Specifically; Congenital hearing loss (Due to OTOF / GJB2 gene mutation, etc.) |
| 690 | ┗ Specifically; Sensorineural hearing loss |
| 691 | ┗ Specifically; Sudden deafness |
| 692 | ┗ Specifically; Age-related hearing loss |
| 693 | Noise-Induced hearing loss (chronic) |
| 694 | Acute noise-induced hearing loss or Acoustic trauma |
| 695 | Drug-induced hearing loss |
| 696 | Chronic tympanic membrane perforations |
| 697 | Otitis media |
| 698 | ┗ Specifically; Eosinophilic otitis media |
| 699 | Ringing in the ears |
| 700 | Meniere's disease |
| 701 | Perennial allergic rhinitis |
| 702 | Seasonal allergic rhinitis/ hay fever |
| 703 | Seasonal allergic rhinitis / hay fever (in the past year) |
| 704 | ┗ Specifically; Cedar pollen allergy (in the past year) |
| 705 | ┗ Specifically; Pollen allergy from plants of the Poaceae family (in the past year) |
| 706 | ┗ Specifically; Artemisia Pollinosis (in the past year) |
| 707 | ┗ Specifically; Salicaceae Pollinosis (in the past year) |
| 708 | Acute sinusitis |
| 709 | Chronic sinusitis |
| 710 | ┗ Specifically; Chronic sinusitis not accompanying nasal polyps |
| 711 | ┗ Specifically; Chronic sinusitis with nasal polyps |
| 712 | ┗ Specifically; Allergic fungal rhinosinusitis |
| 713 | ┗ Specifically; Eosinophilic Sinusitis |
| 714 | ┗ Specifically; Eosinophilic sinusitis not accompanying nasal polyps |
| 715 | ┗ Specifically; Eosinophilic chronic rhinosinusitis with nasal polyps |
| 716 | Nasal polyp |
| 717 | ┗ Specifically; Eosinophilic nasal polyps |
| 718 | Obstructive sleep apnea syndrome |
| 719 | Dysgeusia |
| 720 | Cow's milk protein allergy |
| 721 | Atopic dermatitis |
| 722 | ┗ Specifically; Infant atopic dermatitis |
| 723 | ┗ Specifically; Pediatric (excluding infants) atopic dermatitis |
| 724 | ┗ Specifically; Pediatric atopic dermatitis |
| 725 | Prurigo nodularis |
| 726 | Urticaria |
| 727 | ┗ Specifically; Chronic spontaneous urticaria |
| 728 | Itching |
| 729 | ┗ Specifically; Itching in dialysis patients |
| 730 | ┗ Specifically; Itching in chronic liver disease patients |
| 731 | Seborrheic dermatitis |
| 732 | Acne vulgaris (acne) |
| 733 | Rosacea |
| 734 | Asteatosis (xerosis / dry skin) |
| 735 | ┗ Specifically; Asteatotic dermatitis |
| 736 | Psoriasis |
| 737 | ┗ Specifically; Psoriasis vulgaris |
| 738 | ┗ Specifically; Psoriatic arthritis |
| 739 | ┗ Specifically; Erythrodermic psoriasis |
| 740 | Pustular psoriasis |
| 741 | ┗ Specifically; Generalized pustular psoriasis |
| 742 | Palmoplantar pustulosis |
| 743 | Solar keratosis |
| 744 | Lichen planus |
| 745 | Pemphigus |
| 746 | ┗ Specifically; Pemphigus vulgaris |
| 747 | Pemphigoid (including epidermolysis bullosa acquisita) |
| 748 | ┗ Specifically; Bullous pemphigoid |
| 749 | Epidermolysis bullosa |
| 750 | ┗ Specifically; Epidermolysis bullosa simplex |
| 751 | ┗ Specifically; Junctional epidermolysis bullosa |
| 752 | ┗ Specifically; Dominant dystrophic epidermolysis bullosa |
| 753 | ┗ Specifically; Recessive dystrophic epidermolysis bullosa |
| 754 | Cutaneous lupus erythematosus |
| 755 | Systemic sclerosis |
| 756 | Localized sclerosis |
| 757 | Localized Scleroderma |
| 758 | Polymyositis / Dermatomyositis |
| 759 | ┗ Specifically; Polymyositis |
| 760 | Pyoderma gangrenosum |
| 761 | Herpes labialis |
| 762 | Herpes zoster |
| 763 | Molluscum contagiosum |
| 764 | Verruca vulgaris |
| 765 | Impetigo contagiosa |
| 766 | Hidradenitis suppurativa |
| 767 | cSSSI being caused gram-positive bacterium |
| 768 | Dermatophytosis (ringworm/ tinea) |
| 769 | Dermatomycosis |
| 770 | ┗ Specifically; Tinea pedis (Athlete's foot) |
| 771 | Onychomycosis |
| 772 | Foot fungus/ Nail fungus |
| 773 | ┗ Specifically; Cutaneous candidiasis |
| 774 | Pressure ulcer |
| 775 | Stasis dermatitis |
| 776 | Venous skin ulcer |
| 777 | Arterial skin ulcer |
| 778 | Diabetic foot ulcer (foot lesions) |
| 779 | Diabetic ulcer |
| 780 | Diabetic skin ulcer |
| 781 | Burns |
| 782 | ┗ Specifically; Mild burns |
| 783 | ┗ Specifically; Moderate burns |
| 784 | ┗ Specifically; Severe and extremely severe burns |
| 785 | Hemangioma |
| 786 | Strawberry hemangiomas |
| 787 | Androgenic alopecia (AGA) |
| 788 | Alopecia areata |
| 789 | Maschalyperidrosis |
| 790 | Focal hyperhidrosis |
| 791 | ┗ Specifically; Primary axillary hyperhidrosis |
| 792 | ┗ Specifically; Focal hyperhidrosis confined to the hands |
| 793 | ┗ Specifically; Focal hyperhidrosis confined to the feet |
| 794 | ┗ Specifically; Focal hyperhidrosis confined to the head / face |
| 795 | Secondary axillary hyperhidrosis |
| 796 | Underarm odor |
| 797 | Vitiligo vulgaris |
| 798 | Senile lentigines |
| 799 | Senile skin atrophy |
| 800 | Erythropoietin Protoporphyria |
| 801 | Mycosis fungoides |
| 802 | Sézary's disease |
| 803 | Cronkhite-canada |
| 804 | Chronic nonspecific multiple ulcers of the small intestine |
| 805 | Hirschsprung's disease |
| 806 | Chronic Idiopathic Intestinal Pseudo-Obstruction |
| 807 | Megacystis Microcolon Intestinal Hypoperistalsis Syndrome |
| 808 | Hypoganglionosis |
| 809 | Congenital diaphragmatic hernia |
| 810 | Fluminant hepatitis |
| 811 | Intrahepatic lithiasis |
| 812 | Progressive familial intrahepatic cholestasis |
| 813 | Biliary atresia |
| 814 | Alagille syndrome |
| 815 | Hepatic Veno-Occlusive Disease / Sinusoidal Obstruction Syndrome (VOD / SOS) |
| 816 | Intrahepatic bile duct disease |
| 817 | Idiopathic portal hypertension (IPH) |
| 818 | Extrahepahc portal obstruction |
| 819 | Budd-Chiari syndrome |
| 820 | Pancreatic cystic fibrosis |
| 821 | Severe acute pancreatitis |
| 822 | Chronic pancreatitis |
| 823 | Restrictive cardiomyopathy |
| 824 | Dilated cardiomyopathy |
| 825 | Idiopathic dilated cardiomyopathy |
| 826 | Transthyretin Cardiac Amyloidosis (ATTR-CM) |
| 827 | Ebstein's anomaly |
| 828 | Hypoplastic Left Heart syndrome |
| 829 | Double outlet right ventricle |
| 830 | Complete transposition of great arteries |
| 831 | Corrected transposition of the great arteries |
| 832 | Polysplenia syndrome |
| 833 | Asplenia syndrome |
| 834 | Buerger disease |
| 835 | Giant venous malformation (cervical, oral and oropharyngeal diffuse lesion) |
| 836 | Gigantic arteriovenous malformation (cervicofacial/limb lesion) |
| 837 | Lymphangiomatosis/Gorham-Stout disease |
| 838 | Giant lymphatic malformation (cervicofacial lesion) |
| 839 | Osler disease |
| 840 | Klippel-Trenaunay-Weber syndrome |
| 841 | Giant infantile hepatic hemangioma |
| 842 | Idiopathic interstitial pneumonia |
| 843 | Juvenile emphysema |
| 844 | Alveolar hypoventilation syndrome |
| 845 | Pulmonary capillary hemangiomatosis |
| 846 | Cystic Fibrosis (CF) |
| 847 | Bronchiolitis obliterans |
| 848 | Diffuse panbronchiolitis (DPB) |
| 849 | Primary ciliary dyskinesia (including Kartagener syndrome) |
| 850 | Hypopituitarism |
| 851 | Anterior pituitary hyposecretion syndrome |
| 852 | Kallman Syndrome |
| 853 | Cushing syndrome |
| 854 | Cushing disease |
| 855 | Primary aldosteronism |
| 856 | Pseudohypoaldosteronism |
| 857 | Addison's disease |
| 858 | Adrenal hypoplasia |
| 859 | congenital adrenal hypoplasia |
| 860 | Adrenal enzyme deletion |
| 861 | Congenital adrenal hyperplasia |
| 862 | Congenital adrenal cortex enzyme deficiency |
| 863 | Glucocorticoid resistance syndrome |
| 864 | Syndrome of abnormal secretion of prolactin |
| 865 | Pituitary PRL secretion hyperthyroidism |
| 866 | Syndrome of abnormal recepter of TSH |
| 867 | Pituitary TSH secretion hyperthyroidism |
| 868 | Syndrome of abnormal secretion of gonadotropin |
| 869 | Pituitary gonadotropin secretion hyperthyroidism |
| 870 | Syndrome of abnormal secretion of antidiuretic hormone |
| 871 | Syndrome of Inappropriate Antidiuretic Hormone Secretion |
| 872 | Syndrome of inappropriate antidiuretic hormone secretion (SIADH) |
| 873 | Excessive secretion of growth hormone |
| 874 | Thyroid hormone resistance syndrome |
| 875 | Lysosomal storage diseases |
| 876 | GM1 gangliosidosis |
| 877 | Krabbe disease |
| 878 | Gaucher disease |
| 879 | Fabry disease |
| 880 | Pompe Disease |
| 881 | Niemann-Pick disease type A / type B |
| 882 | Niemann-Pick disease type C |
| 883 | Metachromatic leukodystrophy (MLD) |
| 884 | Tay-Sachs disease |
| 885 | Sandhoff disease |
| 886 | Mucopolysaccharidosis (MPS) |
| 887 | ┗ Specifically; Mucopolysaccharidosis type I (Hurler syndrome, Scheie syndrome) |
| 888 | ┗ Specifically; Mucopolysaccharidosis type II (Hunter syndrome) |
| 889 | ┗ Specifically; Mucopolysaccharidosis type III (Sanfilippo Syndrome) |
| 890 | ┗ Specifically; Mucopolysaccharidosis type IV (Morquio syndrome) |
| 891 | ┗ Specifically; Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) |
| 892 | Peroxisomal disorder |
| 893 | Adrenoleukodystrophy |
| 894 | Peroxisomal disorder (excluding adrenoleukodystrophy) |
| 895 | Mitochondrial disease |
| 896 | ┗ Specifically; Leigh syndrome |
| 897 | Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, Stroke-like episodes |
| 898 | Urea Cycle disorders |
| 899 | ┗ Specifically; Argininosuccinic aciduria |
| 900 | ┗ Specifically; Citrin deficiency |
| 901 | Organic acid metabolism disorders (organic acidemia) |
| 902 | ┗ Specifically; Maple Syrup Urine Disease (MSUD) |
| 903 | ┗ Specifically; Propionic acidemia |
| 904 | ┗ Specifically; Isovaleric acidemia |
| 905 | ┗ Specifically; Methylmalonic acidemia |
| 906 | Long chain fatty acid oxidation disorder (LC-FAOD) |
| 907 | α1-Antitrypsin Deficiency |
| 908 | Hepatic glycogen storage disease |
| 909 | Diabetic Myopathy |
| 910 | Aromatic L-amino acid decarboxylase deficiency |
| 911 | Homocystinuria |
| 912 | hyperphenylalaninemia |
| 913 | Hereditary Tyrosinemia type I |
| 914 | Primary hyperoxaluria |
| 915 | Glutaric acidemia type 1 |
| 916 | Glutaric acidemia type 2 |
| 917 | Carnitine deficiency |
| 918 | Glucose transporter type 1 deficiency syndrome |
| 919 | Galactose-1-phosphate uridyltransferase deficiency |
| 920 | Cerebral creatine deficiency syndromes |
| 921 | Hereditary folate malabsorption |
| 922 | Nonketotic hyperglycinemia |
| 923 | Cerebrotendinous xanthomatosis |
| 924 | Sepiapterin reductase (SR) deficiency |
| 925 | Wilson's disease |
| 926 | Porphyria |
| 927 | Acute intermittent porphyria |
| 928 | Primary hyperlipidemia |
| 929 | ┗ Specifically; Familial hypercholesterolemia |
| 930 | Lipoatrophy |
| 931 | Tangier disease |
| 932 | Primary hyperchylomicronemia |
| 933 | Abetalipoproteinemia |
| 934 | Familial hypobetalipoproteinemia 1 (homozygous) |
| 935 | Systemic lupus erythematosus (SLE) |
| 936 | ┗ Specifically; Pediatric systemic lupus erythematosus (SLE) |
| 937 | ┗ Specifically; Systemic lupus erythematosus without lupus nephritis |
| 938 | Mixed connective-tissue disease |
| 939 | Sjogren's syndrome |
| 940 | Systemic juvenile idiopathic arthritis |
| 941 | Adult Still's Disease (ASD) |
| 942 | Behcet disease |
| 943 | ┗ Specifically; Neuro-Behcet's disease |
| 944 | Antiphospholipid syndrome (APS) |
| 945 | ┗ Specifically; Primary anti-phospholipid antibody syndrome |
| 946 | IgG4-related disease |
| 947 | Relapsing polychondritis |
| 948 | Sarcoidosis |
| 949 | ┗ Specifically; Chronic sarcoidosis |
| 950 | Angiitis |
| 951 | Giant cell arteritis |
| 952 | Temporal arteritis |
| 953 | Takayasu's disease (aortitis syndrome) |
| 954 | Polyarteritis nodosa |
| 955 | Malignant rheumatoid arthritis (rheumatoid vasculitis) |
| 956 | ┗ Specifically; Malignant Rheumatoid Arthritis |
| 957 | ANCA-associated vasculitis |
| 958 | ┗ Specifically; Microscopic polyangiitis |
| 959 | ┗ Specifically; Granulomatosis with polyangiitis (GPA) |
| 960 | Eosinophilic granulomatosis with polyangiitis (EGPA) |
| 961 | Immune complex vasculitis |
| 962 | ┗ Specifically; Henoch–Schönlein purpura |
| 963 | ┗ Specifically; Essential cryoglobulinemia |
| 964 | Acquired angioedema |
| 965 | Hereditary angioedema |
| 966 | Hereditary autoinflammatory syndrome |
| 967 | Familial Mediterranean Fever Gene |
| 968 | Cryopyrin-Associated Periodic Syndrome |
| 969 | TNF receptor associated periodic syndrome |
| 970 | Hyper IgD syndrome |
| 971 | Blau syndrome |
| 972 | Nakajo-Nishimura syndrome |
| 973 | Chronic recurrent multifocal osteomyelitis |
| 974 | Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome |
| 975 | Autoinflammatory syndrome caused by NLRC4 gene mutation |
| 976 | VEXAS syndrome |
| 977 | Primary immunodeficiency syndrome |
| 978 | Common variable immunodeficiency (CVID) |
| 979 | Wiskott-Aldrich syndrome (WAS) |
| 980 | X-linked lymphoproliferative syndrome |
| 981 | Chronic granulomatous disease (CGD) |
| 982 | ┗ Specifically; X-CGD |
| 983 | Secondary immunodeficiency |
| 984 | ┗ Specifically; Secondary hyperammonemia |
| 985 | Hemolytic anemia |
| 986 | Sickle cell disease (SCD) |
| 987 | Congenital dyserythropoietic anemia (CDA) |
| 988 | Diamond-Blackfan anemia (DBA) |
| 989 | Hereditary sideroblastic anemia |
| 990 | Fanconi anemia |
| 991 | Acquired Pure Red Cell Aplasia (PRCA) |
| 992 | Iron overload |
| 993 | Neuroacanthocytosis |
| 994 | Autoimmune coagulation factor deficiency |
| 995 | Autoimmune Hemorrhaphilia XIII |
| 996 | Idiopathic thrombosis |
| 997 | ┗ Specifically; Idiopathic thrombosis due to inherited thrombophilia |
| 998 | Transplant-associated thrombotic microangiopathy (TA-TMA) |
| 999 | Amyloidosis |
| 1000 | ┗ Specifically; Systemic amyloidosis |
| 1001 | ┗ Specifically; AL amyloidosis |
| 1002 | Primary amyloidosis (AL) |
| 1003 | Familial (hereditary) amyloidosis (FA) |
| 1004 | Secondary amyloidosis (AA) |
| 1005 | Idiopathic multicentric Castleman disease (iMCD) |
| 1006 | Post-transplant lymphoproliferative disorders (PTLD) |
| 1007 | Adult T-cell leukemia-lymphoma (ATL) |
| 1008 | Langerhans-Cell Histiocytosis (LCH) |
| 1009 | Multiple system atrophy |
| 1010 | ┗ Specifically; Olivopontocerebellar atrophy |
| 1011 | Shy-Drager syndrome |
| 1012 | Striatonigral degeneration (SND) |
| 1013 | Progressive supranuclear palsy (PSP) |
| 1014 | Corticobasal degeneration |
| 1015 | Perry syndrome |
| 1016 | Huntington's disease |
| 1017 | Chorea with acanthocyte |
| 1018 | Frontotemporal lobar degeneration |
| 1019 | Familial idiopathic basal ganglia calcification (FIBGC) |
| 1020 | Neurodegeneration with brain iron accumulation |
| 1021 | Superficial siderosis |
| 1022 | Neuroferritinopathy |
| 1023 | Hereditary dystonia |
| 1024 | Spinocerebellar ataxia |
| 1025 | Machado-Joseph disease (MJD) |
| 1026 | Dentatorubropallidoluysianatrophy (DRPLA) |
| 1027 | Primary lateral sclerosis |
| 1028 | Spinal and bulbar muscular atrophy (SBMA) |
| 1029 | Spinal muscular atrophy (SMA) |
| 1030 | ┗ Specifically; Spinal muscular atrophy (SMA) Type 1 |
| 1031 | ┗ Specifically; Spinal muscular atrophy (SMA) Type 2 |
| 1032 | ┗ Specifically; Spinal muscular atrophy (SMA) Type 3 |
| 1033 | ┗ Specifically; Spinal muscular atrophy (SMA) Type 4 |
| 1034 | HTLV1-associated myelopathy (HAM) |
| 1035 | Syringomyelia |
| 1036 | Atopic myelitis |
| 1037 | Myelomeningocele |
| 1038 | Subacute Myelo-Optico-Neuropathy (SMON) |
| 1039 | Charcot-Marie-Tooth disease |
| 1040 | ┗ Specifically; Charcot-Marie-Tooth disease type 1 (CMT1) |
| 1041 | ┗ Specifically; Charcot-Marie-Tooth disease type 1A (CMT1A) |
| 1042 | ┗ Specifically; Charcot-Marie-Tooth disease type 2A (CMT2A) |
| 1043 | Guillain-Barre syndrome |
| 1044 | Fisher's syndrome |
| 1045 | Chronic Inflammatory Demyelinating Polyneuropathy |
| 1046 | Multifocal motor neuropathy |
| 1047 | Crow‐Fukase syndrome |
| 1048 | Isaacs' syndrome |
| 1049 | Congenital insensitivity to pain with anhidrosis (CIPA) |
| 1050 | Muscular dystrophy |
| 1051 | ┗ Specifically; Limb-girdle muscular dystrophy (LGMD) |
| 1052 | ┗ Specifically; Limb-girdle muscular dystrophy 1 |
| 1053 | ┗ Specifically; Limb-girdle muscular dystrophy 2 |
| 1054 | ┗ Specifically; Limb-girdle muscular dystrophy type 2I (LGMD2I) |
| 1055 | ┗ Specifically; Duchenne muscular dystrophy |
| 1056 | ┗ Specifically; Becker muscular dystrophy (BMD) |
| 1057 | ┗ Specifically; Myotonic dystrophy |
| 1058 | ┗ Specifically; Fukuyama congenital muscular dystrophy |
| 1059 | ┗ Specifically; Facioscapulohumeral muscular dystrophy (FSHD) |
| 1060 | Non-dystrophic myotonia |
| 1061 | Congenital myopathy |
| 1062 | ┗ Specifically; Centronuclear myopathy |
| 1063 | Distal Myopathy |
| 1064 | Ullrich disease |
| 1065 | Bethlem myopathy |
| 1066 | Inclusion body myositis |
| 1067 | Autophagic vacuolar myopathy |
| 1068 | Congenital myasthenic syndrome |
| 1069 | Familial periodic paralysis |
| 1070 | HTRA1-related cerebral small-vessel disease |
| 1071 | Moyamoya disease |
| 1072 | Creuzfeldt-Jakob Disease (CJD) |
| 1073 | Gerstmann-Straussler-Sheinker syndrome |
| 1074 | Fatal familial insomnia |
| 1075 | Subacute sclerosing panencephalitis (SSPE) |
| 1076 | Progressive multifocal leukoencephalopathy (PML) |
| 1077 | Rasmussen's encephalitis |
| 1078 | Bickerstaff's brainstem encephalitis |
| 1079 | Acute encephalopathy with biphasic seizures and late reduced diffusion |
| 1080 | Acute encephalitis with refractory, repetitive partial seizures(AERRPS) |
| 1081 | Lennox-Gastaut syndrome |
| 1082 | West syndrome |
| 1083 | Dravet syndrome |
| 1084 | Ohtahara syndrome |
| 1085 | Landau-Kleffner syndrome |
| 1086 | Continuous spikes and waves during sleep (CSWS) / Electrical status epilepticus in sleep (ESES) |
| 1087 | Early Myoclonic Encephalopathy (EME) |
| 1088 | Epilepsy with myoclonic absence (EMA) |
| 1089 | Epilepsy with Myoclonic-astatic seizures |
| 1090 | Progressive myoclonus epilepsy |
| 1091 | ┗ Specifically; Lafora disease |
| 1092 | Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis |
| 1093 | ┗ Specifically; Refractory mesial temporal lobe epilepsy with hippocampal sclerosis |
| 1094 | Epilepsy of infancy with migrating focal seizures |
| 1095 | Hemiconvulsion−hemiplegia−epilepsy syndrome |
| 1096 | Ring chromosome 20 epilepsy syndrome |
| 1097 | PCDH19 related syndrome |
| 1098 | Congenital Cerebral Hypomyelination |
| 1099 | Canavan disease |
| 1100 | Alexander's disease |
| 1101 | Hereditary diffuse leukoencephalopathy with spheroid (HDLS) |
| 1102 | Nasu-Hakola disease |
| 1103 | Hemimegalencephaly |
| 1104 | Focal cortical dysplasia |
| 1105 | Neuronal migration disorder |
| 1106 | Moebius syndrome |
| 1107 | Worster Drought syndrome |
| 1108 | Developmental Disorder |
| 1109 | Central eating disorder |
| 1110 | Ossification of posterior longitudinal Ligament |
| 1111 | Ossification of the ligamentum flavum |
| 1112 | Ossification of anterior longitudinal ligament |
| 1113 | Disseminated spinal canal stenosis |
| 1114 | Legg-Calvé-Perthes disease (LCPD) |
| 1115 | Idiopathic steroidal osteonecrosis |
| 1116 | Fibrodysplasia ossificans progressiva (FOP) |
| 1117 | Fibrous dysplasia of bone |
| 1118 | Osteogenesis Imperfecta (OI) |
| 1119 | Thanatophoric dysplasia |
| 1120 | Marble bone disease |
| 1121 | Hypochondroplasia |
| 1122 | Eosinophilic fasciitis |
| 1123 | Syndrome of abnormal vitamin D receptor |
| 1124 | Vitamin D-dependent rickets |
| 1125 | Vitamin D-resistant rickets |
| 1126 | Tumor induced osteomalacia (TIO) |
| 1127 | Hypophosphatasia |
| 1128 | Lupus nephritis |
| 1129 | Epstein syndrome |
| 1130 | Nail-patella syndrome/LMX1B-associated nephropathy |
| 1131 | Anti-glomerular basement membrane disease |
| 1132 | Polycystic kidney |
| 1133 | Galloway-Mowat syndrome |
| 1134 | Henoch-Schönlein purpura nephritis (HSPN) |
| 1135 | Septo-optic dysplasia / De Morsier syndrome |
| 1136 | Refractory optic neuropathy |
| 1137 | Macular Dystrophy |
| 1138 | HTLV-1 associated uveitis (HU) |
| 1139 | Neurotrophic keratitis |
| 1140 | Fuchs' corneal dystrophy (FCD) |
| 1141 | Early-onset bilateral sensorineural hearing loss |
| 1142 | Idiopathic bilaterally sensorineural deafness |
| 1143 | Usher syndrome |
| 1144 | Delayed endolymphatic hydrops |
| 1145 | Neurofibromatosis type1 (NF1) / Von Recklinghausen's disease (VRD) |
| 1146 | Neurofibromatosis type 1 (Recklinghausen's disease) |
| 1147 | ┗ Specifically; Cutaneous neurofibromatosis |
| 1148 | Neurofibromatosis type 2 |
| 1149 | Severe erythema multiforme (Acute Phase) |
| 1150 | Stevens-Johnson syndrome |
| 1151 | Toxic epidermal necrolysis |
| 1152 | Xeroderma Pigmentosum (XP) |
| 1153 | Familial Benign Pemphigus (Hailey-Hailey Disease) |
| 1154 | Congenital ichthyosiform erythroderma |
| 1155 | Netherton syndrome |
| 1156 | Acquired idiopathic generalized anhidrosis |
| 1157 | Lichen sclerosus et atrophicus |
| 1158 | Tuberous sclerosis (Bourneville-Pringle) |
| 1159 | ┗ Specifically; Epilepsy associated with tuberous sclerosis |
| 1160 | Renal AML associated with Tuberous Sclerosis Complex |
| 1161 | Sturge-Weber syndrome |
| 1162 | Prader-Willi syndrome |
| 1163 | Noonan syndrome |
| 1164 | Angelman syndrome |
| 1165 | 22q11.2 deletion syndrome |
| 1166 | 4p deletion syndrome |
| 1167 | Fragile X syndrome |
| 1168 | Fragile X-associated disorders |
| 1169 | MECP2 duplication syndrome |
| 1170 | ATR-X syndrome |
| 1171 | Rett syndrome |
| 1172 | Aicardi syndrome |
| 1173 | Ehlers-Danlos syndrome (EDS) |
| 1174 | Pseudoxanthoma elasticum |
| 1175 | Rothmund-Thomson syndrome |
| 1176 | Pachydermoperiostosis |
| 1177 | ┗ Specifically; Hutchinson‐Gilford syndrome |
| 1178 | ┗ Specifically; Cockayne syndrome |
| 1179 | ┗ Specifically; Werner syndrome |
| 1180 | Crouzon syndrome |
| 1181 | Apert syndrome |
| 1182 | Pfeiffer syndrome |
| 1183 | Antley–Bixler syndrome |
| 1184 | Occipital horn syndrome |
| 1185 | Coffin–Siris syndrome |
| 1186 | Coffin-Lowry syndrome |
| 1187 | Branchio-oto-renal syndrome (BOR syndrome) |
| 1188 | Mowat-Wilson syndrome |
| 1189 | Rubinstein-Taybi syndrome |
| 1190 | Cardiofaciocutaneous syndrome |
| 1191 | Costello syndrome |
| 1192 | CHARGE syndrome |
| 1193 | Young-Simpson syndrome |
| 1194 | Smith-Magenis syndrome |
| 1195 | Kabuki syndrome |
| 1196 | Weaver syndrome |
| 1197 | Wolfram syndrome (DIDMOAD) |
| 1198 | Carney complex |
| 1199 | VATER association |
| 1200 | Williams syndrome |
| 1201 | Joubert syndrome-related disorders (Arima syndrome) |
| 1202 | Marinesco-Shögren syndrome |
| 1203 | Schwartz–Jampel syndrome |
| 1204 | NGLY1 deficiency |
| 1205 | Congenital disorders of glycosylation |
| 1206 | Congenital glycosylphosphatidylinositol (GPI) deficiency |
| 1207 | X-linked hypophosphatemia (XLH) |
| 1208 | Familial sudden death syndrome |
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