Dyggve-Melchior-Clausen Syndrome

Preferred Label : Dyggve-Melchior-Clausen Syndrome;

NCIt synonyms : Dyggve-Melchior-Clausen Disease; DMC;

NCIt definition : A rare, autosomal recessive inherited syndrome caused by mutations in the DYM gene. It is characterized by abnormal skeletal development, microcephaly, and intellectual disability.;

Details

Origin ID

C124844;

UMLS CUI

C0265286;

Automatic exact mappings (from CISMeF team)
- Congenital muscular dystrophy [ORDO Disease]
- Cxc chemokine ligand 17 [OMIM gene]
- congenital muscular dysdrophy [CISMeF Querying Strategy]
Currated CISMeF NLP mapping
- Dyggve Melchior Clausen syndrome [PASCAL descriptor]
- Dyggve Melchior Clausen syndrome [Disease (Nov.)]
- Dyggve-Melchior-Clausen disease [ORDO Disease]
- Dyggve-Melchior-Clausen disease [DO Concept]
- Dyggve-Melchior-Clausen disease [ICD-11 More detail]
- Dyggve-Melchior-Clausen syndrome [MeSH concept]
- Dyggve-Melchior-Clausen syndrome [MeSH Supplementary Concept]
- Dyggve-Melchior-Clausen syndrome (disorder) [SNOMED CT concept]
- Dyggve-melchior-clausen disease [OMIM Phenotype]
- dyggve-melchior-clausen syndrome [SNOMED Notion]
False automatic mappings
- chlorfenethol [MeSH Supplementary Concept]
See also inter- (CISMeF)
- dymeclin [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dyggve Melchior Clausen syndrome [PASCAL descriptor]
- Dyggve Melchior Clausen syndrome [Disease (Nov.)]
- Dyggve-Melchior-Clausen disease [ORDO Disease]
- Dyggve-Melchior-Clausen disease [DO Concept]
- Dyggve-Melchior-Clausen disease [ICD-11 More detail]
- Dyggve-Melchior-Clausen syndrome [MeSH Supplementary Concept]
- Dyggve-Melchior-Clausen syndrome [MeSH concept]
- Dyggve-Melchior-Clausen syndrome (disorder) [SNOMED CT concept]
- Dyggve-melchior-clausen disease [OMIM Phenotype]
- dyggve-melchior-clausen syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- DYM Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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