Parkes weber syndrome

Preferred Label : Parkes weber syndrome;

Obsolete resource : true;

Moved to : 608354;

Symbol : PKWS;

CISMeF acronym : PKWS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the RAS p21 protein activator 1 gene (RASA1, 139150.0004);

Prefixed ID : 608355;

Détails

Origin ID

608355;

UMLS CUI

C0038505;

Automatic exact mappings (from CISMeF team)
- Parkes-Weber syndrome [MedDRA Preferred Term]
- Parkes-Weber syndrome [ICD-11 More detail]
- RASA1 wt Allele [NCIt concept]
- sturge-weber syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Angio-osteohypertrophic syndrome [ICD-11 Sub-sub category]
- Angio-osteohypertrophic syndrome (disorder) [SNOMED CT concept]
- Angioosteohypertrophic syndrome [ORDO Disease]
- Klippel Trenaunay Weber syndrome [Disease (Nov.)]
- Klippel-Trenaunay syndrome [MedDRA Preferred Term]
- Klippel-Trenaunay syndrome [DO Concept]
- Klippel-Trenaunay-Weber Syndrome [NCIt concept]
- Klippel-Trenaunay-Weber syndrome [MeSH concept]
- Klippel-Trenaunay-Weber syndrome [MedDRA LLT]
- Klippel-Trenaunay-Weber syndrome [MeSH Descriptor]
- Klippel-Trénaunay syndrome [ORDO Disease]
- Parkes Weber syndrome [ORDO Disease]
- Parkes Weber syndrome (disorder) [SNOMED CT concept]
- klippel-trenaunay-weber syndrome [SNOMED Notion]
- weber klippel trenaunay [MeSH concept]
- weber klippel trenaunay [MeSH Supplementary Concept]
False automatic mappings
- Klippel Trenaunay Weber syndrome [Disease (Nov.)]
HPO term(s)
- Arteriovenous fistula [HPO term]
ORDO concept(s)
- Angioosteohypertrophic syndrome [ORDO Disease]
- Parkes Weber syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- 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 [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 [MeSH concept]
- Sturge-Weber syndrome [MedDRA Preferred Term]
- Sturge-Weber syndrome [ACR pathology]
- Sturge-Weber syndrome [DO Concept]
- Sturge-Weber syndrome (disorder) [SNOMED CT concept]
- encephalotrigeminal angiomatosis [Radlex concept]
- sturge-weber sequence [SNOMED Notion]
- sturge-weber syndrome [MeSH Descriptor]

Position du mot-clé dans l'(les) arborescence(s) :

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