Dyskeratosis Congenita

Preferred Label : Dyskeratosis Congenita;

NCIt synonyms : DKC; Zinsser-Engman-Cole Syndrome;

NCIt definition : A rare genetic disorder characterized by nail dystrophy, reticulated skin pigmentation especially on the neck and chest, and oral leukoplakia. In about half the cases mutations in the TERT, TERC, DKC1, or TINF2 genes are identified. Patients are at an increased risk of developing bone marrow failure, myelodysplastic syndrome, leukemia, or cancer, especially in the head and neck region.;

Details

Origin ID

C111802;

UMLS CUI

C0265965;

Automatic exact mappings (from CISMeF team)
- choledochal cyst [MeSH Descriptor]
Currated CISMeF NLP mapping
- Congenital dyskeratosis [MedDRA Preferred Term]
- Dyskeratosis congenita [PASCAL descriptor]
- Dyskeratosis congenita [ORDO Disease]
- Dyskeratosis congenita [ICD-11 More detail]
- Dyskeratosis congenita [OMIM phenotypic series]
- Dyskeratosis congenita (disorder) [SNOMED CT concept]
- Zinsser-Cole-Engman syndrome [MeSH concept]
- dyskeratosis congenita [MeSH Descriptor]
- dyskeratosis congenita [SNOMED Notion]
- dyskeratosis congenita [MeSH concept]
- dyskeratosis congenita [DO Concept]
- dyskeratosis congenita [Disease (Nov.)]
DO Cross reference
- dyskeratosis congenita [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
See also inter- (CISMeF)
- dyskerin pseudouridine synthase 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital dyskeratosis [MedDRA Preferred Term]
- Dyskeratosis congenita [ORDO Disease]
- Dyskeratosis congenita [ICD-11 More detail]
- Dyskeratosis congenita (disorder) [SNOMED CT concept]
- dyskeratosis congenita [SNOMED Notion]
- dyskeratosis congenita [DO Concept]
- dyskeratosis congenita [MeSH Descriptor]
- dyskeratosis congenita [MeSH concept]
- dyskeratosis congenita [Disease (Nov.)]
Validated automatic mappings to BTNT
- Dyskeratosis congenita, X-linked [OMIM Phenotype]
- X-linked dyskeratosis congenita [DO Concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
may_be_associated_disease_of_disease
- Refractory Cytopenia of Childhood [NCIt concept]
related_to_genetic_biomarker
- ACD Gene [NCIt concept]
- DKC1 Gene [NCIt concept]
- NHP2 Gene [NCIt concept]
- NOP10 Gene [NCIt concept]
- PARN Gene [NCIt concept]
- RTEL1 Gene [NCIt concept]
- TERC Gene [NCIt concept]
- TERT Gene [NCIt concept]
- TINF2 Gene [NCIt concept]
- WRAP53 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients