Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Lymphatic Abnormalities
22q11 Deletion Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Chromosome Disorders
22q11 Deletion Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Chromosome Disorders
22q11 Deletion Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
22q11 Deletion Syndrome
...
Congenital Abnormalities
Cardiovascular Abnormalities
Heart Defects, Congenital
22q11 Deletion Syndrome
Cardiovascular Diseases
Cardiovascular Abnormalities
Heart Defects, Congenital
22q11 Deletion Syndrome
Musculoskeletal Diseases
Musculoskeletal Abnormalities
Craniofacial Abnormalities
22q11 Deletion Syndrome
Término preferido
DiGeorge Syndrome
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Tipo
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mesh:Descriptor
Definición
- 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.
Concepto genérico
Etiquetas alternativas
- Autosomal Dominant Opitz G-Bbb Syndrome
- Catch22
- DiGeorge Anomaly
- DiGeorge Sequence
- Familial Third and Fourth Pharyngeal Pouch Syndrome
- Hypoplasia of Thymus and Parathyroids
- Pharyngeal Pouch Syndrome
- Third and Fourth Pharyngeal Pouch Syndrome
- Thymic Aplasia Syndrome
En otras lenguas
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francés
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Cardiac anomaly, Abnormal face, Thymus hypoplasia, Cleft palate, Hypocalcaemia, 22 chromosome
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CATCH 22
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SDG (Syndrome de DiGeorge)
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Syndrome de délétion du chromosome 22q11
URI
http://data.loterre.fr/ark:/67375/JVR-S9J3FTM5-B
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