Cornelia De Lange Syndrome

Preferred Label : Cornelia De Lange Syndrome;

NCIt definition : A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.;

Details

Origin ID

C75016;

UMLS CUI

C0270972;

Automatic exact mappings (from CISMeF team)
- De Lange syndrome [PASCAL descriptor]
Currated CISMeF NLP mapping
- Brachmann de Lange syndrome [Disease (Nov.)]
- Cornelia de Lange syndrome [ACR pathology]
- Cornelia de Lange syndrome [DO Concept]
- Cornelia de Lange syndrome [ICD-11 More detail]
- Cornelia de Lange syndrome [MedDRA Preferred Term]
- Cornelia de Lange syndrome [ORDO Disease]
- Cornelia de lange syndrome [OMIM phenotypic series]
- De Lange syndrome (disorder) [SNOMED CT concept]
- de lange syndrome [MeSH Descriptor]
- de lange syndrome [MeSH concept]
- de lange syndrome [SNOMED Notion]
- de lange's syndrome [MedDRA Preferred Term]
DO Cross reference
- Cornelia de Lange syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachmann de Lange syndrome [Disease (Nov.)]
- Cornelia de Lange syndrome [ORDO Disease]
- Cornelia de Lange syndrome [DO Concept]
- Cornelia de Lange syndrome [ACR pathology]
- Cornelia de Lange syndrome [MedDRA Preferred Term]
- Cornelia de lange syndrome 1 [OMIM Phenotype]
- De Lange syndrome (disorder) [SNOMED CT concept]
- De Lange's syndrome [MedDRA LLT]
- de lange syndrome [MeSH concept]
- de lange syndrome [SNOMED Notion]
- de lange syndrome [MeSH Descriptor]
- de lange's syndrome [MedDRA Preferred Term]
Validated automatic mappings to BTNT
- Cornelia de lange syndrome 1 [OMIM Phenotype]
associated_with_malfunction_of_gene_product
- Nipped-B-Like Protein [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_associated_gene
- NIPBL wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- NIPBL Gene [NCIt concept]
- SMC1A Gene [NCIt concept]
- SMC3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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