digeorge syndrome

Preferred Label : digeorge syndrome;

MeSH definition : Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.;

MeSH synonym : hypoplasia of thymus and parathyroids; syndrome, digeorge; DiGeorge anomaly; thymic aplasia syndrome; pharyngeal pouch syndrome; third and fourth pharyngeal pouch syndrome; DiGeorge sequence; familial third and fourth pharyngeal pouch syndrome; autosomal dominant opitz G-Bbb syndrome; autosomal dominant opitz G bbb syndrome; Catch22;

CISMeF synonym : 22q11.2 deletion syndromes; deletion syndromes, 22q11.2; pharyngeal pouch syndromes; syndrome, 22q11.2 deletion; syndrome, shprintzen VCF; syndromes, 22q11.2 deletion; syndromes, VCF; thymic aplasia syndromes; VCF syndrome, shprintzen; VCF syndromes;

MeSH hyponym : velocardiofacial syndrome; Syndrome, Velocardiofacial; Sedlackova Syndrome; Syndrome, Sedlackova; Shprintzen Syndrome; Syndrome, Shprintzen; 22q11.2DS; VCF Syndrome; Syndrome, VCF; Velo-Cardio-Facial Syndrome; Syndrome, Velo-Cardio-Facial; Velo Cardio Facial Syndrome; Deletion 22q11.2 Syndrome; 22q11.2 Deletion Syndrome; Deletion Syndrome, 22q11.2; Shprintzen VCF Syndrome;

Related MeSH term : conotruncal anomaly face syndrome; Conotruncal Anomaly Face Syndrome (CTAF);

False MeSH synonym : Syndrome, Velocardiofacial; Syndrome, Velo-Cardio-Facial; Velo Cardio Facial Syndrome; Velo-Cardio-Facial Syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Catch22;

Details

Origin ID

D004062;

UMLS CUI

C0012236;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
CISMeF manual mappings
- digeorge sequence [SNOMED Notion]
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 [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]
- Velo-cardio-facial syndrome [MedDRA Preferred Term]
- Velocardiofacial syndrome [PASCAL descriptor]
- velocardiofacial syndrome [DO Concept]
DO Cross reference
- DiGeorge syndrome [DO Concept]
- velocardiofacial syndrome [DO Concept]
False automatic mappings
- 22q11 partial monosomy syndrome (disorder) [SNOMED CT concept]
- shprintzen syndrome [SNOMED Notion]
Has phenotype(s) (HPO)
- Bulbous nasal tip [HPO term]
Indexing information
- CDC45 protein, human [MeSH Supplementary Concept]
- Cdc45 protein, mouse [MeSH Supplementary Concept]
- Dgcr6 protein, mouse [MeSH Supplementary Concept]
- ESS2 protein, human [MeSH Supplementary Concept]
- adhesion receptor [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Branchial arch or oral-acral syndrome [ORDO Disease]
- Combined T and B cell immunodeficiency [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome [ORDO Disease]
- Pierre Robin syndrome associated with a chromosomal anomaly [ORDO Disease]
- Rare syndrome with cardiac malformations [ORDO Disease]
- Sucking/swallowing disorder associated with an identified syndrome [ORDO Disease]
- Syndrome or malformation associated with head and neck malformations [ORDO Disease]
- Syndrome with hypoparathyroidism [ORDO Disease]
- Syndromic anorectal malformation [ORDO Disease]
- Syndromic genetic deafness [ORDO Disease]
- Syndromic renal or urinary tract malformation [ORDO Disease]
MeSH indexing information
- CDC45 protein, human [MeSH Supplementary Concept]
- Cdc45 protein, mouse [MeSH Supplementary Concept]
- Dgcr6 protein, mouse [MeSH Supplementary Concept]
- adhesion receptor [MeSH Supplementary Concept]
Record concept(s)
- DiGeorge syndrome [MeSH concept]
- conotruncal anomaly face syndrome [MeSH concept]
- velocardiofacial syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Digeorge Syndrome-Velocardiofacial Syndrome Complex 2 [MeSH Supplementary Concept]
- chromosome 22q11.2 deletion syndrome, distal [MeSH Supplementary Concept]
- chromosome 22q11.2 microduplication syndrome [MeSH Supplementary Concept]
- takao VCF syndrome [MeSH Supplementary Concept]
See also
- Claudin-5 [MeSH Descriptor]
See also inter- (CISMeF)
- 22q11.2 deletion syndrome [ORDO Disease]
- Shprintzen syndrome (disorder) [Inactive SNOMED CT concept]
- Velocardiofacial syndrome [OMIM Phenotype]
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]
- Di George's syndrome [ICD-10 Sub-category]
- DiGeorge sequence (disorder) [Inactive SNOMED CT concept]
- DiGeorge syndrome [DO 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]
- digeorge sequence [SNOMED Notion]

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