Primary erythromelalgia

Preferred Label : Primary erythromelalgia;

ICD-11 definition : Primary Erythromelalgia is characterized by intermittent burning pain, redness and warmth in the distal hands and feet. The primary form is often familial and inherited in an autosomal dominant fashion. Some patients have gain of function mutations in the SCN9A gene which encodes a voltage gated sodium channel ?-subunit, Nav 1.7.;

Details

Origin ID

327001486;

UMLS CUI

C0014805;

Currated CISMeF NLP mapping
- Erythermalgia, primary [OMIM Phenotype]
- Primary Erythromelalgia [NCIt concept]
- Primary erythromelalgia [ORDO Disease]
- Primary erythromelalgia (disorder) [SNOMED CT concept]
- primary erythermalgia [Disease (Nov.)]
- primary erythermalgia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Erythermalgia, primary [OMIM Phenotype]
- Primary Erythermalgia [NCIt concept]
- Primary Erythromelalgia [NCIt concept]
- Primary erythromelalgia [ORDO Disease]
- Primary erythromelalgia (disorder) [SNOMED CT concept]
- primary erythermalgia [MeSH concept]
- primary erythermalgia [Disease (Nov.)]
Validated automatic mappings to NTBT
- erythromelalgia [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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