Familial Dysautonomia

Preferred Label : Familial Dysautonomia;

NCIt synonyms : HSAN 3; Riley-Day Syndrome; HSAN III; Neuropathy, Hereditary Sensory and Autonomic, Type III;

NCIt related terms : hereditary sensory and autonomic neuropathy type III; Riley- Day;

NCIt definition : A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.;

Alternative definition : ACC/AHA: A dysautonomia due to a genetic disorder associated with an abnormality of the sensory and autonomic nerves, decreased sensation of pain and decreased production of tears.;

Details

Origin ID

C84706;

UMLS CUI

C0013364;

Currated CISMeF NLP mapping
- Familial dysautonomia [PASCAL descriptor]
- Familial dysautonomia [ORDO Disease]
- Familial dysautonomia [MedDRA LLT]
- Familial dysautonomia (disorder) [SNOMED CT concept]
- Familial dysautonomia [Riley-Day] [ICD-10 Sub-category]
- Familial dysautonomia [Riley-Day] [ICD-10 Sub-category (who)]
- Hereditary sensory and autonomic neuropathy type III [ICD-11 Subcategory]
- Neuropathy, hereditary sensory and autonomic, type III [OMIM Phenotype]
- Riley-Day syndrome [MedDRA Preferred Term]
- Riley-Day syndrome [DO Concept]
- dysautonomia, familial [MeSH Descriptor]
- dysautonomia, familial [MeSH concept]
- familial dysautonomia [Disease (Nov.)]
- familial dysautonomia [SNOMED Notion]
- familial dysautonomia [Radlex concept]
DO Cross reference
- Riley-Day syndrome [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial dysautonomia [ORDO Disease]
- Familial dysautonomia [PASCAL descriptor]
- Familial dysautonomia [MedDRA LLT]
- Familial dysautonomia (disorder) [SNOMED CT concept]
- Familial dysautonomia [Riley-Day] [ICD-10 Sub-category]
- Hereditary sensory and autonomic neuropathy type III [ICD-11 Subcategory]
- Neuropathy, hereditary sensory and autonomic, type III [OMIM Phenotype]
- Riley-Day syndrome [MedDRA Preferred Term]
- Riley-Day syndrome [DO Concept]
- dysautonomia, familial [MeSH concept]
- dysautonomia, familial [MeSH Descriptor]
- familial dysautonomia [Radlex concept]
- familial dysautonomia [Disease (Nov.)]
- familial dysautonomia [SNOMED Notion]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]
disease_mapped_to_gene
- ELP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients