9q22.3 deletion

Preferred Label : 9q22.3 deletion;

ICD-11 definition : Interstitial 9q22.3 microdeletion is a chromosomal anomaly associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features are also observed.;

ICD-11 synonym : 9q22.3 microdeletion syndrome; Monosomy 9q22.3;

Details

Origin ID

17584690;

UMLS CUI

C3711390;

Currated CISMeF NLP mapping
- 9q22.3 deletion syndrome (disorder) [SNOMED CT concept]
- 9q22.3 microdeletion [MeSH Supplementary Concept]
- 9q22.3 microdeletion [MeSH concept]
- Monosomy 9q22.3 [ORDO Disease]
- Monosomy 9q22.3 syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 9q22.3 deletion syndrome (disorder) [SNOMED CT concept]
- 9q22.3 microdeletion [MeSH concept]
- 9q22.3 microdeletion [MeSH Supplementary Concept]
- Monosomy 9q22.3 [ORDO Disease]
- Monosomy 9q22.3 syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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