2q37 deletion - CISMeF

Preferred Label : 2q37 deletion;

ICD-11 definition : Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.;

ICD-11 synonym : 2q37 deletion syndrome; Monosomy 2q37; Albright hereditary osteodystrophy 3; Brachydactyly-intellectual deficit; Albright hereditary osteodystrophy-like syndrome;

Details

Origin ID

1167208445;

UMLS CUI

C2931817;

Currated CISMeF NLP mapping
- 2q37 microdeletion syndrome [ORDO Disease]
- Chromosome 2q37 Deletion Syndrome [NCIt concept]
- 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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 2q37 microdeletion syndrome [ORDO Disease]
- Chromosome 2q37 Deletion Syndrome [NCIt concept]
- 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]

Keyword's position in hierarchy(ies) :

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