Concept information
[muestre todas las 11 rutas]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Lymphatic 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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