Neuropathy, Hereditary Sensory and Autonomic, Type I

Preferred Label : Neuropathy, Hereditary Sensory and Autonomic, Type I;

NCIt synonyms : Hereditary Sensory and Autonomic Neuropathy Type 1; HSAN1;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the SPTLC1 gene, encoding serine palmitoyltransferase long chain base subunit 1. It is characterized by distal sensory impairment with variable autonomic and motor involvement.;

Details

Origin ID

C170433;

UMLS CUI

C0020071;

Automatic exact mappings (from CISMeF team)
- Hereditary sensory neuropathy-deafness-dementia syndrome [ORDO Disease]
- hereditary sensory and autonomic neuropathies [MeSH Descriptor]
- serine palmitoyltransferase long chain base subunit 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Hereditary sensory and autonomic neuropathy type 1 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type I [ICD-11 Subcategory]
- Hereditary sensory and autonomic neuropathy type I (disorder) [SNOMED CT concept]
- Neuropathy, hereditary sensory and autonomic, type ia [OMIM Phenotype]
- hereditary sensory and autonomic neuropathy type 1 [DO Concept]
DO Cross reference
- hereditary sensory and autonomic neuropathy type 1 [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt 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 IA [ICD-11 More detail]
- Hereditary sensory and autonomic neuropathy type 1 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type I [ICD-11 Subcategory]
- 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]
concept_is_in_subset
- 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
- SPTLC1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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