Hereditary sensory and autonomic neuropathy type III

ICD-11 code : 8C21.1;

Preferred Label : Hereditary sensory and autonomic neuropathy type III;

ICD-11 definition : Hereditary sensory and autonomic neuropathy, type 3 (HSAN3) is an autosomal recessive disorder seen primarily in Ashkenazi Jewish children caused by a mutation in the I-kappa B kinase associated protein. It is characterized by sensory dysfunction and severe impairment of the autonomic nervous system activity, resulting in multisystem dysfunction. Symptoms can include insensitivity to pain and temperature, intact visceral pain, alacrima, hypoactive corneal and tendon reflexes and absence of lingual fungiform papillae.;

ICD-11 synonym : Familial dysautonomia; Hereditary sensory and autonomic neuropathy type 3; Riley Day syndrome; HSAN3 - [Hereditary sensory and autonomic neuropathy type 3];

ICD-11 acronym : HSAN3;

Details

Origin ID

831377479;

UMLS CUI

C0013364;

Currated CISMeF NLP mapping
- Familial Dysautonomia [NCIt concept]
- Familial dysautonomia [ORDO Disease]
- Familial dysautonomia [MedDRA LLT]
- Familial dysautonomia [PASCAL descriptor]
- Familial dysautonomia (disorder) [SNOMED CT concept]
- Familial dysautonomia [Riley-Day] [ICD-10 Sub-category]
- Familial dysautonomia [Riley-Day] [ICD-10 Sub-category (who)]
- Neuropathy, hereditary sensory and autonomic, type III [OMIM Phenotype]
- Riley-Day syndrome [DO Concept]
- Riley-Day syndrome [MedDRA Preferred Term]
- dysautonomia, familial [MeSH Descriptor]
- dysautonomia, familial [MeSH concept]
- familial dysautonomia [SNOMED Notion]
- familial dysautonomia [Radlex concept]
- familial dysautonomia [Disease (Nov.)]
ICD-10 Mapping
- Familial dysautonomia [Riley-Day] [ICD-10 Sub-category]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Dysautonomia [NCIt concept]
- Familial dysautonomia [MedDRA LLT]
- Familial dysautonomia [ORDO Disease]
- Familial dysautonomia [PASCAL descriptor]
- Familial dysautonomia (disorder) [SNOMED CT concept]
- Familial dysautonomia [Riley-Day] [ICD-10 Sub-category]
- Neuropathy, hereditary sensory and autonomic, type III [OMIM Phenotype]
- Riley-Day syndrome [DO Concept]
- Riley-Day syndrome [MedDRA Preferred Term]
- dysautonomia, familial [MeSH Descriptor]
- dysautonomia, familial [MeSH concept]
- familial dysautonomia [Disease (Nov.)]
- familial dysautonomia [Radlex concept]
- familial dysautonomia [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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