Hereditary sensory and autonomic neuropathy Type IA

Preferred Label : Hereditary sensory and autonomic neuropathy Type IA;

ICD-11 definition : Hereditary sensory autonomic neuropathy type I is an autosomal dominant (mutation in the SPTLC1 gene that encodes for subunit 1 of serine palmitoyltransferase) sensory radiculo neuropathy that presents in the second decade. It present with distal pain and nociceptive and thermal perception deficits, later to be follwoed by anhidrosis, trophic ulcers, acral injuries, stress fractures and osteomyelitis.;

ICD-11 synonym : Hereditary sensory autonomic neuropathy Type IA; HSAN1A - [Hereditary sensory autonomic neuropathy Type IA];

ICD-11 acronym : HSAN1A;

Détails

Origin ID

779564433;

UMLS CUI

C0020071;

Currated CISMeF NLP mapping
- Hereditary sensory autonomic neuropathy type IA (disorder) [SNOMED CT concept]
- Neuropathy, hereditary sensory and autonomic, type ia [OMIM Phenotype]
- hereditary sensory and autonomic neuropathy type 1A [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant sensory neuropathy (disorder) [SNOMED CT concept]
- Hereditary sensory and autonomic neuropathy type 1 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type I (disorder) [SNOMED CT concept]
- Neuropathy, Hereditary Sensory and Autonomic, Type I [NCIt concept]
- Neuropathy, hereditary sensory and autonomic, type ia [OMIM Phenotype]
- dominant hereditary sensory neuropathy, type i [SNOMED Notion]
- hereditary sensory and autonomic neuropathy type 1 [DO Concept]
- hereditary sensory and autonomic neuropathy type 1A [DO Concept]
- hereditary sensory neuropathy type 1 [Disease (Nov.)]
- hereditary sensory neuropathy type I [MeSH concept]
Validated automatic mappings to NTBT
- Hereditary sensory and autonomic neuropathy type 1 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type I (disorder) [SNOMED CT concept]
- dominant hereditary sensory neuropathy, type i [SNOMED Notion]
- hereditary sensory and autonomic neuropathy type 1 [DO Concept]
- hereditary sensory neuropathy type 1 [Disease (Nov.)]
- hereditary sensory neuropathy type I [MeSH concept]

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