loading...| Preferred Name |
DiGeorge Syndrome |
| Synonyms |
Third and Fourth Pharyngeal Pouch Syndrome |
| Definitions |
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. |
| ID |
http://purl.bioontology.org/ontology/MESH/D004062 |
| altLabel |
Third and Fourth Pharyngeal Pouch Syndrome 22q11.2 Deletion Syndrome Velocardiofacial Syndrome VCF Syndrome Shprintzen VCF Syndrome Velo-Cardio-Facial Syndrome Autosomal Dominant Opitz G-Bbb Syndrome DiGeorge Sequence Velo Cardio Facial Syndrome 22q11.2DS Autosomal Dominant Opitz G Bbb Syndrome Shprintzen Syndrome DiGeorge Anomaly Pharyngeal Pouch Syndrome Deletion 22q11.2 Syndrome Catch22 Syndrome, VCF Deletion Syndrome, 22q11.2 Conotruncal Anomaly Face Syndrome Syndrome, Shprintzen Sedlackova Syndrome Syndrome, DiGeorge Familial Third and Fourth Pharyngeal Pouch Syndrome Syndrome, Velo-Cardio-Facial Syndrome, Velocardiofacial Thymic Aplasia Syndrome Syndrome, Sedlackova Hypoplasia of Thymus and Parathyroids Conotruncal Anomaly Face Syndrome (CTAF) |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C0012236 C0220704 C0795907 |
| DC |
1 |
| 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. |
| DX |
19910101 |
| FX |
D062507 |
| HN |
91(77); was see under IMMUNOLOGIC DEFICIENCY SYNDROMES 1977-90 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Machine permutation |
91; was see under IMMUNOLOGIC DEFICIENCY SYNDROMES 1977-90 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C563337 http://purl.bioontology.org/ontology/MESH/C566051 |
| MDA |
19760416 |
| MMR |
20130708 |
| MN |
C05.660.207.103.500 C16.131.482.249.500 C14.240.400.021.500 C16.131.260.019.500 C16.131.621.207.103.500 C14.280.400.044.500 C15.604.451.249.500 C16.131.240.400.021.500 C16.131.077.019.500 C19.642.482.500.500 C16.320.180.019.500 |
| notation |
D004062 |
| prefLabel |
DiGeorge Syndrome |
| TERMUI |
T824228 T764159 T824231 T764163 T824232 T824229 T614252 T614250 T840751 T824230 T012337 T764162 T764158 T843595 T764161 T757850 T764160 T614251 T843596 T840753 T843594 |
| TH |
NLM (2006) NLM (2013) NLM (2011) NLM (1977) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |