chromosome 22, microdeletion 22 q11

Preferred Label : chromosome 22, microdeletion 22 q11;

MeSH synonym : microdeletion 22 q11;

Is substance : O;

Origin ID

C536797;

UMLS CUI

C2931329;

Currated CISMeF NLP mapping
- 22q11.2 Deletion Syndrome [NCIt concept]
- 22q11.2 deletion syndrome [MedDRA Preferred Term]
- 22q11.2 deletion syndrome (disorder) [SNOMED CT concept]
- CATCH 22 phenotype [ICD-11 Sub-sub category]
- Di George's syndrome [ICD-10 Sub-category]
- DiGeorge sequence (disorder) [Inactive SNOMED CT concept]
- DiGeorge syndrome [DO Concept]
- DiGeorge syndrome [Disease (Nov.)]
- DiGeorge syndrome [PASCAL descriptor]
- DiGeorge's syndrome [MedDRA Preferred Term]
- Digeorge syndrome [OMIM Phenotype]
- Digeorge's syndrome [ICD-9 code]
- Thymic-parathyroid aplasia [MedDRA LLT]
- digeorge sequence [SNOMED Notion]
- velocardiofacial syndrome [DO Concept]
MeSH term(s) associated for indexing
- chromosome deletion [MeSH Descriptor]
- chromosomes, human, pair 22 [MeSH Descriptor]
Record concept(s)
- Chromosome 22, microdeletion 22 q11 [MeSH concept]
See also inter- (CISMeF)
- Shprintzen syndrome (disorder) [Inactive SNOMED CT concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
Validated automatic mappings to BTNT
- 22q11.2 deletion syndrome [ORDO Disease]
- Velocardiofacial syndrome [OMIM Phenotype]