Hereditary Benign Intraepithelial Dyskeratosis

Preferred Label : Hereditary Benign Intraepithelial Dyskeratosis;

NCIt synonyms : Witkop-Von Sallmann Disease; HBID;

NCIt definition : A rare autosomal dominant disorder with high penetrance that affects the limbal conjunctiva or oral mucosa. It is almost exclusively encountered in Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina and is caused by a duplication in chromosome 4q35. It is characterized by the presence of elevated epithelial dyskeratotic plaques in the limbal conjunctiva or oral cavity. Epithelial dysplasia is absent.;

Neoplastic status : Benign;

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]
Disease excludes abnormal cell
- Malignant Cell [NCIt concept]
- Malignant Epithelial Cell [NCIt concept]
- Malignant Squamous Cell [NCIt concept]
- Neoplastic Glandular Cell [NCIt concept]
- Neoplastic Smooth Muscle Cell [NCIt concept]
Disease excludes normal cell origin
- Endocrine-Stromal Cell [NCIt concept]
Has cytogenetic abnormalities
- Gain of Chromosome 4q35 [NCIt concept]
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_excludes_finding
- Borderline Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Mixed Cellular Population [NCIt concept]
- Mixed Neoplastic Glandular and Squamous Cell Population [NCIt concept]
disease_has_abnormal_cell
- Neoplastic Cell [NCIt concept]
- Neoplastic Epithelial Cell [NCIt concept]
- Neoplastic Squamous Cell [NCIt concept]
disease_has_finding
- Benign Cellular Infiltrate [NCIt concept]
- Dyskeratosis [NCIt concept]
- Elevated Plaque-Like Lesion [NCIt concept]
- Epithelial Component Present [NCIt concept]
- Hereditary Lesion [NCIt concept]
disease_has_normal_cell_origin
- Epithelial Cell [NCIt concept]
disease_has_normal_tissue_origin
- Epithelial Tissue [NCIt concept]

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