Dyggve-Melchior-Clausen syndrome

Preferred Label : Dyggve-Melchior-Clausen syndrome;

MeSH note : PROM mutation in DYM;

CISMeF synonym : X-linked Dyggve-Melchior-Clausen syndrome;

MeSH synonym : Dyggve-Melchior-Clausen disease;

MeSH hyponym : Dyggve-Melchior-Clausen Syndrome, X-Linked; Dyggve-Melchior-Clausen syndrome X linked;

Détails

Origin ID

C535726;

UMLS CUI

C0265286;

Automatic exact mappings (from CISMeF team)
- Dyggve-melchior-clausen syndrome, X-linked [OMIM Phenotype]
Currated CISMeF NLP mapping
- Dyggve Melchior Clausen syndrome [Disease (Nov.)]
- Dyggve Melchior Clausen syndrome [PASCAL descriptor]
- Dyggve-Melchior-Clausen Syndrome [NCIt concept]
- Dyggve-Melchior-Clausen disease [DO Concept]
- Dyggve-Melchior-Clausen disease [ICD-11 More detail]
- Dyggve-Melchior-Clausen disease [ORDO Disease]
- Dyggve-Melchior-Clausen syndrome (disorder) [SNOMED CT concept]
- Dyggve-melchior-clausen disease [OMIM Phenotype]
- dyggve-melchior-clausen syndrome [SNOMED Notion]
MeSH term(s) associated for indexing
- dwarfism [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
ORDO relation(s)
- Dyggve-Melchior-Clausen disease [ORDO Disease]
Record concept(s)
- Dyggve-Melchior-Clausen syndrome [MeSH concept]
- X-linked Dyggve-Melchior-Clausen syndrome [MeSH concept]
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 Syndrome [NCIt concept]
- Dyggve-Melchior-Clausen disease [ORDO Disease]
- Dyggve-Melchior-Clausen disease [DO Concept]
- Dyggve-Melchior-Clausen disease [ICD-11 More detail]
- Dyggve-Melchior-Clausen syndrome (disorder) [SNOMED CT concept]
- Dyggve-melchior-clausen disease [OMIM Phenotype]
- dyggve-melchior-clausen syndrome [SNOMED Notion]

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