Epidermodysplasia Verruciformis

Preferred Label : Epidermodysplasia Verruciformis;

NCIt synonyms : Lewandowsky-Lutz Dysplasia; EV;

NCIt definition : An extremely rare skin disorder usually inherited in an autosomal recessive pattern and caused by mutation(s) in the TMC6 or TMC8 gene, encoding transmembrane channel-like protein 6 and transmembrane channel-like protein 8, respectively. It is characterized by chronic human papillomavirus infection. Patients develop papillomatous wart-like lesions and pigmented plaques on the skin. It predisposes to cutaneous carcinomas, especially in situ and invasive squamous cell carcinomas.;

Détails

Origin ID

C126877;

UMLS CUI

C0014522;

Currated CISMeF NLP mapping
- Epidermodysplasia verruciformis [MedDRA Preferred Term]
- Epidermodysplasia verruciformis [ORDO Disease]
- Epidermodysplasia verruciformis [ICD-11 More detail]
- Epidermodysplasia verruciformis (disorder) [SNOMED CT concept]
- Epidermodysplasia verruciformis Lewandowsky-Lutz [PASCAL descriptor]
- Lewandowsky-Lutz disease [MedDRA LLT]
- epidermodysplasia verruciformis [MeSH Descriptor]
- epidermodysplasia verruciformis [SNOMED Notion]
- epidermodysplasia verruciformis [MeSH concept]
- epidermodysplasia verruciformis [DO Concept]
- epidermodysplasia verruciformis [Disease (Nov.)]
DO Cross reference
- epidermodysplasia verruciformis [DO Concept]
False automatic mappings
- electronvolt (qualifier value) [SNOMED CT concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermodysplasia verruciformis [ORDO Disease]
- Epidermodysplasia verruciformis [MedDRA Preferred Term]
- Epidermodysplasia verruciformis (disorder) [SNOMED CT concept]
- Epidermodysplasia verruciformis, susceptibility to, 1 [OMIM Phenotype]
- Lewandowsky-Lutz disease [MedDRA LLT]
- epidermodysplasia verruciformis [SNOMED Notion]
- epidermodysplasia verruciformis [DO Concept]
- epidermodysplasia verruciformis [MeSH Descriptor]
- epidermodysplasia verruciformis [MeSH concept]
- epidermodysplasia verruciformis [Disease (Nov.)]
Validated automatic mappings to BTNT
- Epidermodysplasia verruciformis, susceptibility to, 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
disease_has_primary_anatomic_site
- Immune System [NCIt concept]
- Skin [NCIt concept]
related_to_genetic_biomarker
- CIB1 Gene [NCIt concept]
- IL7 Gene [NCIt concept]
- RHOH Gene [NCIt concept]
- TMC6 Gene [NCIt concept]
- TMC8 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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