X-Linked Cornelia De Lange Syndrome

Preferred Label : X-Linked Cornelia De Lange Syndrome;

NCIt synonyms : X Linked Cornelia De Lange Syndrome;

NCIt definition : An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.;

Details

Origin ID

C75485;

UMLS CUI

C1802395;

Automatic exact mappings (from CISMeF team)
- de lange syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Cornelia de lange syndrome 2 [OMIM Phenotype]
- cornelia de lange syndrome 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital muscular hypertrophy-cerebral syndrome (disorder) [SNOMED CT concept]
- Cornelia de lange syndrome 2 [OMIM Phenotype]
- congenital muscular hypertrophy-cerebral syndrome [SNOMED Notion]
- cornelia de lange syndrome 2 [MeSH concept]
Validated automatic mappings to NTBT
- de lange syndrome [MeSH Descriptor]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SMC1A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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