Neuropathy, Hereditary Sensory and Autonomic, Type IV

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

NCIt synonyms : CIPA; HSAN4; Hereditary Sensory and Autonomic Neuropathy Type IV; Congenital Insensitivity to Pain with Anhidrosis;

NCIt definition : A rare, autosomal recessive inherited disorder caused by mutations in the NTRK1 gene. It is characterized by inability to feel pain and temperature that leads to repeated unintentional self-injuries, and decreased or absent sweating that leads to hyperpyrexia and febrile seizures.;

Détails

Origin ID

C118633;

UMLS CUI

C0020074;

Automatic exact mappings (from CISMeF team)
- 3-(2-carboxyindol-3-yl)propionic acid [MeSH Supplementary Concept]
- animal care committees [MeSH Descriptor]
- hereditary sensory and autonomic neuropathies [MeSH Descriptor]
Currated CISMeF NLP mapping
- HSAN type IV [MeSH concept]
- Hereditary insensitivity to pain with anhidrosis (disorder) [SNOMED CT concept]
- Hereditary sensory and autonomic neuropathy type 4 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type IV [ICD-11 Subcategory]
- Insensitivity to pain, congenital, with anhidrosis [OMIM Phenotype]
- congenital insensitivity to pain with anhidrosis [Disease (Nov.)]
- hereditary sensory neuropathy type 4 [DO Concept]
- recessive hereditary sensory neuropathy, type iv [SNOMED Notion]
DO Cross reference
- hereditary sensory neuropathy type 4 [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
- Peripheral Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- HSAN type IV [MeSH concept]
- Hereditary insensitivity to pain with anhidrosis (disorder) [SNOMED CT concept]
- Hereditary sensory and autonomic neuropathy type 4 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type IV [ICD-11 Subcategory]
- Insensitivity to pain, congenital, with anhidrosis [OMIM Phenotype]
- congenital insensitivity to pain with anhidrosis [Disease (Nov.)]
- hereditary sensory neuropathy type 4 [DO Concept]
- recessive hereditary sensory neuropathy, type iv [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]
disease_mapped_to_gene
- NTRK1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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