loading...| Preferred Name |
Sturge-Weber Syndrome |
| Synonyms |
Neuroretinoangiomatosis |
| Definitions |
A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects. |
| ID |
http://purl.bioontology.org/ontology/MESH/D013341 |
| altLabel |
Neuroretinoangiomatosis Syndrome, Sturge-Weber-Krabbe Meningo-Oculo-Facial Angiomatosis Syndrome, Sturge Sturge-Weber-Dimitri Syndrome Phakomatosis, Sturge Weber Sturge-Weber Phakomatosis Sturge Kalischer Weber Syndrome Sturge's Syndrome Meningofacial Angiomatosis-Cerebral Calcification Syndrome Syndrome, Encephalofacial Hemangiomatosis Sturge Weber Krabbe Syndrome Syndrome, Sturge-Weber-Dimitri Phakomatosis, Sturge-Weber Parkes Weber Syndrome Encephalofacial Hemangiomatosis Syndrome Sturge Weber Dimitri Syndrome Sturge Weber Syndrome Syndrome, Sturge's Syndrome, Sturge-Weber Sturge Disease Meningo Oculo Facial Angiomatosis Parkes-Weber Syndrome Sturge-Kalischer-Weber Syndrome Hemangiomatosis Syndrome, Encephalofacial Syndrome, Parkes Weber Angiomatosis Oculoorbital-Thalamic Syndrome Sturge Syndrome Syndrome, Parkes-Weber Angiomatosis, Meningo-Oculo-Facial Syndrome, Sturge-Kalischer-Weber Sturge-Weber-Krabbe 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 |
C0038505 |
| DC |
1 |
| definition |
A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects. |
| DX |
19910101 |
| HN |
91(75); was see under ANGIOMATOSIS 1975-90; DIMITRI DISEASE was see STURGE-WEBER SYNDROME 1989-93 |
| 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 |
| Machine permutation |
91; was see under ANGIOMATOSIS 1975-90; DIMITRI DISEASE was see STURGE-WEBER SYNDROME 1989-93 |
| Mapped from | |
| MDA |
19990101 |
| MMR |
20130708 |
| MN |
C10.562.800 C04.557.645.375.850 C14.907.077.850 |
| notation |
D013341 |
| OL |
search ANGIOMATOSIS 1966-74; use STURGE-WEBER SYNDROME to search DIMITRI DISEASE 1989-93 |
| prefLabel |
Sturge-Weber Syndrome |
| TERMUI |
T372483 T039176 T039172 T370610 T370614 T370612 T370616 T811909 T039175 T039173 T370613 T370611 T039174 T370615 T842246 |
| TH |
NLM (1975) UNK (19XX) NLM (2000) NLM (1994) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D006391 |