Chromosome 2q37 Deletion Syndrome

Preferred Label : Chromosome 2q37 Deletion Syndrome;

NCIt synonyms : BDMR; Brachydactyly Mental Retardation Syndrome;

NCIt definition : A syndrome of high phenotypic variability caused by contiguous gene deletions in 2q37. The inheritance is autosomal dominant. The condition may be characterized by brachydactly type E; mental retardation; short stature; and other skeletal, cardiovascular, and neurologic manifestations.;

Détails

Origin ID

C129021;

UMLS CUI

C2931817;

Currated CISMeF NLP mapping
- 2q37 deletion [ICD-11 More detail]
- 2q37 microdeletion syndrome [ORDO Disease]
- Chromosome 2q37 deletion syndrome [OMIM Phenotype]
- Chromosome 2q37 deletion syndrome (disorder) [SNOMED CT concept]
- chromosome 2q37 deletion syndrome [MeSH concept]
- chromosome 2q37 deletion syndrome [MeSH Supplementary Concept]
- chromosome 2q37 deletion syndrome [DO Concept]
DO Cross reference
- chromosome 2q37 deletion syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 2q37 deletion [ICD-11 More detail]
- 2q37 microdeletion syndrome [ORDO Disease]
- Chromosome 2q37 deletion syndrome [OMIM Phenotype]
- Chromosome 2q37 deletion syndrome (disorder) [SNOMED CT concept]
- chromosome 2q37 deletion syndrome [MeSH Supplementary Concept]
- chromosome 2q37 deletion syndrome [MeSH concept]
- chromosome 2q37 deletion syndrome [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 2 [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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