CATCH 22 phenotype

ICD-11 code : LD44.N0;

Preferred Label : CATCH 22 phenotype;

ICD-11 definition : Monosomy 22q11 (DiGeorge Velocardiofacial syndrome, DGS/VCF) syndrome is a chromosomal anomaly characterised by the association of several variable malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal heart defects, a subtle but characteristic facial dysmorphism, cleft palate or velar insufficiency, and learning difficulties.;

ICD-11 synonym : agenesis of the parathyroid and thymus glands; DiGeorge syndrome; DiGeorge sequence; Monosomy 22q11; Velocardiofacial syndrome; third and fourth pharyngeal arch syndrome; CATCH 22; branchial arch syndrome; immunodeficient thymus aplasia; thymic alymphoplasia; Conotruncal anomalies face syndrome; thymic-parathyroid aplasia; immunodeficient thymic aplasia; Shprintzen syndrome; 22q11 deletion syndrome; Pharyngeal pouch syndrome; Sedlackova syndrome; thymic aplasia or hypoplasia with immunodeficiency; thymic hypoplasia syndrome; third and fourth pharyngeal pouch syndrome;

ICD-11 inclusion : DiGeorge syndrome; Pharyngeal pouch syndrome; Velocardiofacial syndrome;

Details

Origin ID

1868156761;

Automatic exact mappings (from CISMeF team)
- Conotruncal heart malformations [OMIM Phenotype]
Currated CISMeF NLP mapping
- 22q11 deletion syndrome [MeSH concept]
- 22q11 deletion syndrome [MeSH Descriptor]
- 22q11.2 Deletion Syndrome [NCIt concept]
- 22q11.2 deletion syndrome (disorder) [SNOMED CT concept]
- Di George's syndrome [ICD-10 Sub-category]
- DiGeorge sequence (disorder) [Inactive SNOMED CT concept]
- DiGeorge syndrome [DO Concept]
- DiGeorge syndrome [MeSH concept]
- DiGeorge syndrome [PASCAL descriptor]
- DiGeorge syndrome [Disease (Nov.)]
- DiGeorge's syndrome [MedDRA Preferred Term]
- Digeorge syndrome [OMIM Phenotype]
- Digeorge's syndrome [ICD-9 code]
- Thymic-parathyroid aplasia [MedDRA LLT]
- chromosome 22, microdeletion 22 q11 [MeSH Supplementary Concept]
- digeorge sequence [SNOMED Notion]
- digeorge syndrome [MeSH Descriptor]
ICD-10 Mapping
- Di George's syndrome [ICD-10 Sub-category]
See also inter- (CISMeF)
- 22q11.2 deletion syndrome [ORDO Disease]
- Shprintzen syndrome (disorder) [Inactive SNOMED CT concept]
- Velo-cardio-facial syndrome [ICD-9 code]
- Velo-cardio-facial syndrome [MedDRA Preferred Term]
- Velocardiofacial syndrome [PASCAL descriptor]
- Velocardiofacial syndrome [OMIM Phenotype]
- shprintzen syndrome [SNOMED Notion]
- velocardiofacial syndrome [DO Concept]
- velocardiofacial syndrome [MeSH concept]
Validated automatic mappings to NTBT
- conotruncal anomaly face syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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