loading...| Preferred Name |
Sturge-Weber Syndrome |
|
| Synonyms |
Syndrome, Sturge's |
|
| 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 |
Syndrome, Sturge's Syndrome, Sturge-Kalischer-Weber Sturge Weber Dimitri Syndrome Parkes Weber Syndrome Hemangiomatosis Syndrome, Encephalofacial Meningo-Oculo-Facial Angiomatosis Neuroretinoangiomatosis Sturge Syndrome Sturge-Weber-Krabbe Syndrome Phakomatosis, Sturge-Weber Syndrome, Parkes Weber Sturge's Syndrome Syndrome, Encephalofacial Hemangiomatosis Phakomatosis, Sturge Weber Encephalofacial Hemangiomatosis Syndrome Sturge Weber Krabbe Syndrome Parkes-Weber Syndrome Sturge Kalischer Weber Syndrome Sturge-Weber Phakomatosis Syndrome, Parkes-Weber Sturge Weber Syndrome Meningofacial Angiomatosis-Cerebral Calcification Syndrome Syndrome, Sturge Sturge Disease Syndrome, Sturge-Weber Meningo Oculo Facial Angiomatosis Syndrome, Sturge-Weber-Dimitri Angiomatosis Oculoorbital-Thalamic Syndrome Angiomatosis, Meningo-Oculo-Facial Syndrome, Sturge-Weber-Krabbe Sturge-Weber-Dimitri Syndrome Sturge-Kalischer-Weber 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 C5574870 |
|
| 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/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 |
|
| Machine permutation |
91; was see under ANGIOMATOSIS 1975-90; DIMITRI DISEASE was see STURGE-WEBER SYNDROME 1989-93 |
|
| Mapped from | ||
| MDA |
19990101 |
|
| MMR |
20230426 |
|
| MN |
C04.557.645.375.850 C14.907.077.850 C10.562.800 |
|
| notation |
D013341 |
|
| OL |
search ANGIOMATOSIS 1966-74; use STURGE-WEBER SYNDROME to search DIMITRI DISEASE 1989-93 |
|
| prefLabel |
Sturge-Weber Syndrome |
|
| TERMUI |
T370610 T039176 T039174 T039172 T372483 T370615 T039173 T039175 T370612 T370616 T370613 T811909 T370614 T370611 T842246 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1975) NLM (1994) UNK (19XX) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D000798 |