Hereditary Benign Intraepithelial Dyskeratosis

Preferred Label : Hereditary Benign Intraepithelial Dyskeratosis;

NCIt synonyms : Witkop-Von Sallmann Disease; HBID;

NCIt definition : A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported.;

Details

Origin ID

C3940;

UMLS CUI

C0265966;

Automatic exact mappings (from CISMeF team)
- Hereditary benign intraepithelial dyskeratosis [ORDO Disease]
- Hereditary benign intraepithelial dyskeratosis [ICD-11 More detail]
Currated CISMeF NLP mapping
- Dyskeratosis, hereditary benign intraepithelial [OMIM Phenotype]
- Hereditary benign intraepithelial dyskeratosis (disorder) [SNOMED CT concept]
- dyskeratosis, hereditary benign intraepithelial [MeSH concept]
- dyskeratosis, hereditary benign intraepithelial [MeSH Supplementary Concept]
- hereditary benign intraepithelial dyskeratosis [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dyskeratosis, hereditary benign intraepithelial [OMIM Phenotype]
- Hereditary benign intraepithelial dyskeratosis [ORDO Disease]
- Hereditary benign intraepithelial dyskeratosis (disorder) [SNOMED CT concept]
- dyskeratosis, hereditary benign intraepithelial [MeSH Supplementary Concept]
- dyskeratosis, hereditary benign intraepithelial [MeSH concept]
- hereditary benign intraepithelial dyskeratosis [SNOMED Notion]
disease_has_finding
- Hereditary Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients