loading...| Preferred Name | DiGeorge Syndrome [Disease/Finding] | |
| Synonyms |
Thymic Aplasia Syndrome Catch22 Hypoplasia of Thymus and Parathyroids DiGeorge Sequence Third and Fourth Pharyngeal Pouch Syndrome Autosomal Dominant Opitz G-Bbb Syndrome Familial Third and Fourth Pharyngeal Pouch Syndrome Pharyngeal Pouch Syndrome DiGeorge Anomaly DiGeorge Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000000971 |
|
| altLabel |
Thymic Aplasia Syndrome Catch22 Hypoplasia of Thymus and Parathyroids DiGeorge Sequence Third and Fourth Pharyngeal Pouch Syndrome Autosomal Dominant Opitz G-Bbb Syndrome Familial Third and Fourth Pharyngeal Pouch Syndrome Pharyngeal Pouch Syndrome DiGeorge Anomaly DiGeorge Syndrome |
|
| cui |
C0012236 |
|
| 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 DUI |
D004062 |
|
| MeSH name |
DiGeorge Syndrome |
|
| MESH UI |
M0006369 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000000971 |
|
| NUI |
N0000000971 |
|
| prefLabel |
DiGeorge Syndrome [Disease/Finding] |
|
| SNOMED CID |
77128003 |
|
| tui |
T047 |
|
| subClassOf |