Primary Erythromelalgia

Preferred Label : Primary Erythromelalgia;

NCIt synonyms : Primary Erythermalgia; PERYTHM;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the SCN9A gene, encoding sodium channel protein type 9 subunit alpha. It is characterized by episodes of recurrent warmth, redness, and burning sensations in the extremities.;

Details

Origin ID

C125383;

UMLS CUI

C0014805;

Currated CISMeF NLP mapping
- Erythermalgia, primary [OMIM Phenotype]
- Primary erythromelalgia [ORDO Disease]
- Primary erythromelalgia [ICD-11 More detail]
- 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 erythromelalgia [ORDO Disease]
- Primary erythromelalgia [ICD-11 More detail]
- Primary erythromelalgia (disorder) [SNOMED CT concept]
- primary erythermalgia [MeSH concept]
- primary erythermalgia [Disease (Nov.)]
Validated automatic mappings to NTBT
- erythromelalgia [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt 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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