Erythrokeratodermia Variabilis

Preferred Label : Erythrokeratodermia Variabilis;

NCIt synonyms : Erythrokeratodermia Variabilis et Progressiva;

NCIt definition : A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents.;

Details

Origin ID

C84696;

UMLS CUI

C0265961;

Currated CISMeF NLP mapping
- Erythrokeratoderma variabilis (disorder) [Inactive SNOMED CT concept]
- Erythrokeratoderma variabilis et progressiva [ICD-11 More detail]
- Erythrokeratoderma variabilis progressiva [ORDO Disease]
- Erythrokeratodermia variabilis [MedDRA Preferred Term]
- Erythrokeratodermia variabilis [ORDO Disease]
- Erythrokeratodermia variabilis (disorder) [SNOMED CT concept]
- Erythrokeratodermia variabilis et progressiva 1 [OMIM Phenotype]
- erythrokeratodermia variabilis [DO Concept]
- erythrokeratodermia variabilis [Disease (Nov.)]
- erythrokeratodermia variabilis [MeSH Descriptor]
- erythrokeratodermia variabilis [MeSH concept]
- erythrokeratodermia variabilis [SNOMED Notion]
DO Cross reference
- erythrokeratodermia variabilis [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Erythrokeratoderma variabilis progressiva [ORDO Disease]
- Erythrokeratodermia variabilis [ORDO Disease]
- Erythrokeratodermia variabilis [MedDRA Preferred Term]
- Erythrokeratodermia variabilis (disorder) [SNOMED CT concept]
- Erythrokeratodermia variabilis et progressiva 1 [OMIM Phenotype]
- Progressive symmetric erythrokeratodermia [ORDO Disease]
- erythrokeratodermia variabilis [DO Concept]
- erythrokeratodermia variabilis [Disease (Nov.)]
- erythrokeratodermia variabilis [MeSH concept]
- erythrokeratodermia variabilis [MeSH Descriptor]
- erythrokeratodermia variabilis [SNOMED Notion]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
related_to_genetic_biomarker
- GJA1 Gene [NCIt concept]
- GJB3 Gene [NCIt concept]
- GJB4 Gene [NCIt concept]
- KDSR Gene [NCIt concept]
- KRT83 Gene [NCIt concept]
- PERP Gene [NCIt concept]
- TRPM4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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