Di George's syndrome

Preferred Label : Di George's syndrome;

Inclusion CIM-10 : Thymic alymphoplasia; Pharyngeal pouch syndrome; Thymic aplasia or hypoplasia with immunodeficiency;

Diag associé à un acte (%) : 81.8;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

D821;

UMLS CUI

C0012236;

Currated CISMeF NLP mapping
- 22q11 deletion syndrome [MeSH concept]
- 22q11 deletion syndrome [MeSH Descriptor]
- 22q11.2 Deletion Syndrome [NCIt concept]
- CATCH 22 phenotype [ICD-11 Sub-sub category]
- Di+Georges syndrome [ICD-10 Sub-category (who)]
- 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]
DO Cross reference
- DiGeorge syndrome [DO Concept]
Excluded by
- Congenital pharyngeal pouch [ICD-10 Sub-category]
- Diseases of thymus [ICD-10 category]
- Hypoparathyroidism [ICD-10 category]
Orphanet concepts
- 22q11.2 deletion syndrome [ORDO Disease]
See also inter- (CISMeF)
- 22q11.2 deletion syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 22q11.2 Deletion Syndrome [NCIt concept]
- 22q11.2 deletion syndrome [MedDRA Preferred Term]
- 22q11.2 deletion syndrome (disorder) [SNOMED CT concept]
- DiGeorge sequence (disorder) [Inactive SNOMED CT concept]
- DiGeorge syndrome [MeSH concept]
- DiGeorge syndrome [PASCAL descriptor]
- DiGeorge syndrome [DO Concept]
- 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]
- digeorge sequence [SNOMED Notion]
- digeorge syndrome [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients