Neuropathy, Hereditary Sensory and Autonomic, Type V

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

NCIt synonyms : HSAN5; Hereditary Sensory and Autonomic Neuropathy Type V;

NCIt definition : An autosomal recessive condition caused by mutation(S) in the NGF gene, encoding beta-nerve growth factor. It is characterized by loss of pain sensation, particularly in the extremities.;

Details

Origin ID

C156360;

UMLS CUI

C0020075;

Automatic exact mappings (from CISMeF team)
- hereditary sensory and autonomic neuropathies [MeSH Descriptor]
Currated CISMeF NLP mapping
- Congenital sensory neuropathy with selective loss of small myelinated fibers (disorder) [SNOMED CT concept]
- Hereditary sensory and autonomic neuropathy type 5 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type V [ICD-11 Subcategory]
- Neuropathy, hereditary sensory and autonomic, type V [OMIM Phenotype]
- hereditary sensory and autonomic neuropathy type 5 [DO Concept]
- hereditary sensory and autonomic neuropathy type V [MeSH concept]
DO Cross reference
- hereditary sensory and autonomic neuropathy type 5 [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital sensory neuropathy with selective loss of small myelinated fibers (disorder) [SNOMED CT concept]
- Hereditary sensory and autonomic neuropathy type 5 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type V [ICD-11 Subcategory]
- Neuropathy, hereditary sensory and autonomic, type V [OMIM Phenotype]
- hereditary sensory and autonomic neuropathy type 5 [DO Concept]
- hereditary sensory and autonomic neuropathy type V [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
- NGF Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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