loading...| Preferred Name |
DiGeorge Syndrome |
|
| Synonyms |
Syndrome, Velo-Cardio-Facial |
|
| 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 |
Syndrome, Velo-Cardio-Facial Thymic Aplasia Syndrome Shprintzen Syndrome Catch22 Conotruncal Anomaly Face Syndrome (CTAF) Hypoplasia of Thymus and Parathyroids DiGeorge Sequence 22q11.2DS Syndrome, Sedlackova VCF Syndrome Third and Fourth Pharyngeal Pouch Syndrome Syndrome, Shprintzen Deletion 22q11.2 Syndrome Velo Cardio Facial Syndrome Autosomal Dominant Opitz G Bbb Syndrome Autosomal Dominant Opitz G-Bbb Syndrome Syndrome, VCF Velo-Cardio-Facial Syndrome Sedlackova Syndrome Velocardiofacial Syndrome Familial Third and Fourth Pharyngeal Pouch Syndrome Conotruncal Anomaly Face Syndrome Syndrome, Velocardiofacial Pharyngeal Pouch Syndrome DiGeorge Anomaly Syndrome, DiGeorge Deletion Syndrome, 22q11.2 Shprintzen VCF Syndrome 22q11.2 Deletion Syndrome |
|
| 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 |
C0795907 C0220704 C0012236 |
|
| 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/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| 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/C567224 |
|
| MDA |
19760416 |
|
| MMR |
20130708 |
|
| MN |
C16.131.240.400.021.500 C16.131.621.207.103.500 C14.280.400.044.500 C05.660.207.103.500 C16.320.180.019.500 C14.240.400.021.500 C15.604.451.249.500 C16.131.077.019.500 C19.642.482.500.500 C16.131.482.249.500 C16.131.260.019.500 |
|
| notation |
D004062 |
|
| prefLabel |
DiGeorge Syndrome |
|
| TERMUI |
T757850 T824228 T764159 T614252 T824231 T012337 T764160 T614251 T764163 T764162 T824230 T614250 T764158 T840751 T843594 T843595 T764161 T824229 T824232 T843596 T840753 |
|
| TH |
OMIM (2013) NLM (1977) NLM (2013) GHR (2014) NLM (2006) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |