Indifference to Pain, Congenital, Autosomal Recessive

Preferred Label : Indifference to Pain, Congenital, Autosomal Recessive;

NCIt synonyms : Congenital Insensitivity to Pain; CIP; Congenital Pain Insensitivity;

NCIt definition : A very rare, autosomal recessive inherited condition caused by mutations in the SCN9A gene. It is characterized by a lack of the ability to perceive physical pain.;

Details

Origin ID

C125386;

UMLS CUI

C1855739;

Automatic exact mappings (from CISMeF team)
- CIP priority [IUPAC Term]
- Hereditary sensory and autonomic neuropathy type V [ICD-11 Subcategory]
- Indifference to pain, congenital, autosomal recessive [OMIM Phenotype]
- Neuropathy, hereditary sensory and autonomic, type V [OMIM Phenotype]
- Re, Si [IUPAC Term]
- indifference to pain, congenital, autosomal recessive [MeSH concept]
- indifference to pain, congenital, autosomal recessive [MeSH Supplementary Concept]
- pain insensitivity, congenital [MeSH concept]
- pain insensitivity, congenital [MeSH Descriptor]
- priority [IUPAC Term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital indifference to pain (finding) [SNOMED CT concept]
- Indifference to pain, congenital, autosomal recessive [OMIM Phenotype]
- congenital pain insensitivity [Disease (Nov.)]
- indifference to pain, congenital, autosomal recessive [MeSH concept]
- indifference to pain, congenital, autosomal recessive [MeSH Supplementary Concept]
- pain insensitivity, congenital [MeSH Descriptor]
- pain insensitivity, congenital [MeSH concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SCN9A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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