dyskeratosis congenita

Preferred Label : dyskeratosis congenita;

MeSH definition : A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.;

MeSH hyponym : Zinsser-Cole-Engman syndrome; Syndrome, Zinsser-Cole-Engman; Zinsser Cole Engman Syndrome; Dyskeratosis Congenita, X-Linked; Congenita, X-Linked Dyskeratosis; Dyskeratosis Congenita, X Linked; X-Linked Dyskeratosis Congenita; X-Linked Dyskeratosis Congenitas;

Wikipedia link : https://en.wikipedia.org/wiki/Dyskeratosis congenita;

Details

Origin ID

D019871;

UMLS CUI

C0265965;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- AML Disease Characteristics Table [NCIt concept]
- DCX wt Allele [NCIt concept]
- DKC1 wt Allele [NCIt concept]
- Doctor of Chiropractic [NCIt concept]
- Dyskeratosis congenita, X-linked [OMIM Phenotype]
- EWS Disease Characteristics Table [NCIt concept]
- X-linked dyskeratosis congenita (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Congenital dyskeratosis [MedDRA Preferred Term]
- Dyskeratosis Congenita [NCIt concept]
- Dyskeratosis congenita [PASCAL descriptor]
- Dyskeratosis congenita [ICD-11 More detail]
- Dyskeratosis congenita [OMIM phenotypic series]
- Dyskeratosis congenita [ORDO Disease]
- Dyskeratosis congenita (disorder) [SNOMED CT concept]
- dyskeratosis congenita [DO Concept]
- dyskeratosis congenita [Disease (Nov.)]
- dyskeratosis congenita [SNOMED Notion]
DO Cross reference
- dyskeratosis congenita [DO Concept]
Manual BTNT mappings - CISMeF
- Hoyeraal-Hreidarsson syndrome [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature [ORDO Disease]
- DNA repair defect other than combined T-cell and B-cell immunodeficiencies [ORDO Disease]
- Ectodermal dysplasia syndrome [ORDO Disease]
- Genetic hyperpigmentation of the skin [ORDO Disease]
- Hereditary palmoplantar keratoderma [ORDO Disease]
- Hyperpigmentation of the skin [ORDO Disease]
- Inherited cancer-predisposing syndrome [ORDO Disease]
- Lacrimal drainage system anomaly [ORDO Disease]
- Malformation syndrome with hamartosis [ORDO Disease]
- Rare constitutional aplastic anemia [ORDO Disease]
- X-linked syndromic intellectual disability [ORDO Disease]
ORDO relation(s)
- Dyskeratosis congenita [ORDO Disease]
Record concept(s)
- Zinsser-Cole-Engman syndrome [MeSH concept]
- dyskeratosis congenita [MeSH concept]
Related MeSH Supplementary Concept(s)
- dyskeratosis congenita, autosomal dominant [MeSH Supplementary Concept]
- dyskeratosis congenita, autosomal recessive [MeSH Supplementary Concept]
- hoyeraal hreidarsson syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital dyskeratosis [MedDRA Preferred Term]
- Dyskeratosis Congenita [NCIt concept]
- Dyskeratosis congenita [ORDO Disease]
- Dyskeratosis congenita [ICD-11 More detail]
- Dyskeratosis congenita (disorder) [SNOMED CT concept]
- dyskeratosis congenita [DO Concept]
- dyskeratosis congenita [Disease (Nov.)]
- dyskeratosis congenita [SNOMED Notion]
Validated automatic mappings to BTNT
- Dyskeratosis congenita, X-linked [OMIM Phenotype]
- X-Linked Dyskeratosis Congenita [NCIt concept]
- X-linked dyskeratosis congenita [DO Concept]

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