22q11.2 Deletion Syndrome

Preferred Label : 22q11.2 Deletion Syndrome;

NCIt synonyms : DiGeorge's Syndrome; DiGeorge Anomaly; DiGeorge s Syndrome;

NCIt related terms : DiGeorge Sequence; 22q11 deletion; Shprintzen Syndrome; CATCH-22; DiGeorge syndrome; DiGeorge Syndrome Type 1; FACES; DGS1; 22q Deletion Syndrome(s);

NCIt definition : A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.;

Alternative definition : NICHD: A group of phenotypically variable, mostly sporadic conditions caused by 1.5- to 3.0-Mb hemizygous deletions of chromosome 22q11.2. Haploinsufficiency of the TBX1 gene encoding the transcription factor T-box 1 is believed responsible for most of the physical findings. Clinical features may include cardiac anomalies, including truncus arteriosus and tetralogy of Fallot, as well as other anomalies, including micrognathia, thymic aplasia (with resultant immunodeficiency), cleft palate, and hypoparathyroidism.; ACC/AHA: A congenital anomaly characterized by partial deletion of the long arm of chromosome 22.;

Details

Origin ID

C2989;

UMLS CUI

C0012236;

Automatic exact mappings (from CISMeF team)
- DiGeorge syndrome [ACR pathology]
- Face [ICNP localization]
- Face [FMA entity]
- Face [LOINC System]
- Face [ICD-11 Extension code]
- Face [ICHI extension code]
- Face [LOINC part]
- Face [LOINC System]
- Face structure (body structure) [SNOMED CT concept]
- Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) [SNOMED CT concept]
- T-box transcription factor 1 [ORDO Gene]
- VCF [EDAM format]
- face [MeSH Descriptor]
- face [UBERON concept]
- face [MeSH concept]
- face [Radlex concept]
- fatty acid 2-chloroethyl ester synthase [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- 22q11 deletion syndrome [MeSH concept]
- 22q11 deletion syndrome [MeSH Descriptor]
- 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 [PASCAL descriptor]
- DiGeorge syndrome [DO Concept]
- DiGeorge syndrome [Disease (Nov.)]
- DiGeorge syndrome [MeSH concept]
- DiGeorge's syndrome [MedDRA Preferred Term]
- Digeorge syndrome [OMIM Phenotype]
- Digeorge's syndrome [ICD-9 code]
- Thymic-parathyroid aplasia [MedDRA LLT]
- Velo-cardio-facial syndrome [MedDRA Preferred Term]
- Velocardiofacial syndrome [OMIM Phenotype]
- Velocardiofacial syndrome [PASCAL descriptor]
- chromosome 22, microdeletion 22 q11 [MeSH Supplementary Concept]
- digeorge sequence [SNOMED Notion]
- digeorge syndrome [MeSH Descriptor]
- velocardiofacial syndrome [MeSH concept]
- velocardiofacial syndrome [DO Concept]
DO Cross reference
- DiGeorge syndrome [DO Concept]
See also inter- (CISMeF)
- 22q11.2 deletion syndrome [ORDO Disease]
- Shprintzen syndrome (disorder) [Inactive SNOMED CT concept]
- shprintzen syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 22q11.2 deletion syndrome [MedDRA Preferred Term]
- 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 [PASCAL descriptor]
- DiGeorge syndrome [DO Concept]
- DiGeorge syndrome [Disease (Nov.)]
- DiGeorge syndrome [MeSH concept]
- 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]
associated_with_malfunction_of_gene_product
- Microprocessor Complex Subunit DGCR8 [NCIt concept]
- Protein HIRA [NCIt concept]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_associated_gene
- DGCR8 Gene [NCIt concept]
- DGCR8 wt Allele [NCIt concept]
- HIRA wt Allele [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 22 [NCIt concept]

Keyword's position in hierarchy(ies) :

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