sturge-weber syndrome

Preferred Label : sturge-weber syndrome;

MeSH 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.;

MeSH synonym : sturge weber krabbe syndrome; syndrome, sturge-weber-krabbe; sturge syndrome; phakomatosis, sturge weber; sturge-weber phakomatosis; phakomatosis, sturge-weber; sturge's syndrome; angiomatosis, meningo-oculo-facial; syndrome, sturge-weber-dimitri; sturge disease; meningo oculo facial angiomatosis; syndrome, encephalofacial hemangiomatosis; syndrome, sturge; syndrome, sturge-weber; meningofacial angiomatosis-cerebral calcification syndrome; sturge-weber-dimitri syndrome; sturge-weber-krabbe syndrome; sturge-kalischer-weber syndrome; neuroretinoangiomatosis; encephalofacial hemangiomatosis syndrome; hemangiomatosis syndrome, encephalofacial; angiomatosis oculoorbital-thalamic syndrome; meningo-oculo-facial angiomatosis; syndrome, sturge's; sturge kalischer weber syndrome; syndrome, sturge-kalischer-weber; sturge weber dimitri syndrome; sturge weber syndrome;

CISMeF synonym : Sturge-Weber; sturge-weber's syndrome; angiomatoses, meningo-oculo-facial; encephalofacial hemangiomatosis syndromes; hemangiomatosis syndromes, encephalofacial; meningo-oculo-facial angiomatoses; meningofacial angiomatosis cerebral calcification syndrome; neuroretinoangiomatoses; parkes weber syndromes; syndromes, encephalofacial hemangiomatosis; syndromes, parkes weber; weber syndrome, parkes; weber syndromes, parkes; parkes weber syndrome;

MeSH hyponym : Syndrome, Parkes Weber; Parkes-Weber Syndrome; Syndrome, Parkes-Weber;

Wikipedia link : https://en.wikipedia.org/wiki/Sturge-weber syndrome;

Details

Origin ID

D013341;

UMLS CUI

C0038505;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Parkes Weber syndrome (disorder) [SNOMED CT concept]
- Parkes weber syndrome [OMIM Phenotype]
- Parkes-Weber syndrome [MedDRA Preferred Term]
- Parkes-Weber syndrome [ICD-11 More detail]
- Sturge-Weber syndrome [DO Concept]
- Sturge-Weber-Krabbe disease [PASCAL descriptor]
Currated CISMeF NLP mapping
- Sturge Weber syndrome [Disease (Nov.)]
- Sturge-Weber Syndrome [NCIt concept]
- Sturge-Weber syndrome [ICD-11 More detail]
- Sturge-Weber syndrome [MedDRA Preferred Term]
- Sturge-Weber syndrome [ACR pathology]
- Sturge-Weber syndrome [ORDO Disease]
- Sturge-Weber syndrome (disorder) [SNOMED CT concept]
- Sturge-weber syndrome [OMIM Phenotype]
- encephalotrigeminal angiomatosis [Radlex concept]
- sturge-weber sequence [SNOMED Notion]
DO Cross reference
- Sturge-Weber syndrome [DO Concept]
False automatic mappings
- Angioosteohypertrophic syndrome [ORDO Disease]
- Klippel Trenaunay Weber syndrome [Disease (Nov.)]
- Parkes Weber syndrome [ORDO Disease]
Indexing information
- GNAQ protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Cerebral diseases of vascular origin with epilepsy [ORDO Disease]
- Conjunctival hemangioma or hemolymphangioma [ORDO Disease]
- Genetic vascular anomaly [ORDO Disease]
- Malformation syndrome with hamartosis [ORDO Disease]
- Neurocutaneous syndrome with epilepsy [ORDO Disease]
- Neurovascular malformation [ORDO Disease]
- Overgrowth syndrome [ORDO Disease]
- Palpebral tumor with a vascular malformation [ORDO Disease]
- Rare capillary malformation [ORDO Disease]
- Rare disease with glaucoma as a major feature [ORDO Disease]
- Skin vascular disease [ORDO Disease]
- Syndrome or malformation associated with head and neck malformations [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
ORDO relation(s)
- Sturge-Weber syndrome [ORDO Disease]
Record concept(s)
- Parkes Weber Syndrome [MeSH concept]
- Sturge-Weber syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Tram track sign brain [MeSH Supplementary Concept]
- worster drought syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Encephalocutaneous angiomatosis [MedDRA Preferred Term]
- Milles' syndrome [MedDRA LLT]
- Parkes Weber syndrome [ORDO Disease]
- Parkes Weber syndrome (disorder) [SNOMED CT concept]
- Parkes weber syndrome [OMIM Phenotype]
- Parkes-Weber syndrome [MedDRA Preferred Term]
- Schirmer's syndrome [MedDRA LLT]
- Sturge Weber syndrome [Disease (Nov.)]
- Sturge-Weber Syndrome [NCIt concept]
- Sturge-Weber syndrome [ORDO Disease]
- Sturge-Weber syndrome [MedDRA Preferred Term]
- Sturge-Weber syndrome [ACR pathology]
- Sturge-Weber syndrome [DO Concept]
- Sturge-Weber syndrome (disorder) [SNOMED CT concept]
- Sturge-weber syndrome [OMIM Phenotype]
- encephalotrigeminal angiomatosis [Radlex concept]
- sturge-weber sequence [SNOMED Notion]

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