Microspherophakia or Weill Marchesani Syndrome

Preferred Label : Microspherophakia or Weill Marchesani Syndrome;

ICD-11 definition : Weill-Marchesani syndrome (WMS) is a rare inherited syndrome characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.;

CISMeF acronym : WMS;

Details

Origin ID

1683934843;

UMLS CUI

C0265313;

Automatic exact mappings (from CISMeF team)
- FBN1 wt Allele [NCIt concept]
- Williams-beuren syndrome [OMIM Phenotype]
CISMeF manual mappings
- Weill-Marchesani syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Marchesani syndrome (disorder) [Inactive SNOMED CT concept]
- Weill Marchesani syndrome [Disease (Nov.)]
- Weill-Marchesani Syndrome [NCIt concept]
- Weill-Marchesani syndrome [PASCAL descriptor]
- Weill-Marchesani syndrome [DO Concept]
- Weill-Marchesani syndrome [ORDO Disease]
- Weill-Marchesani syndrome [MedDRA Preferred Term]
- Weill-Marchesani syndrome [MeSH concept]
- Weill-Marchesani syndrome (disorder) [SNOMED CT concept]
- weill-marchesani syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marchesani syndrome (disorder) [Inactive SNOMED CT concept]
- Weill Marchesani syndrome [Disease (Nov.)]
- Weill-Marchesani Syndrome [NCIt concept]
- Weill-Marchesani syndrome [DO Concept]
- Weill-Marchesani syndrome [MedDRA Preferred Term]
- Weill-Marchesani syndrome [MeSH Descriptor]
- Weill-Marchesani syndrome [MeSH concept]
- Weill-Marchesani syndrome [ORDO Disease]
- Weill-Marchesani syndrome [PASCAL descriptor]
- Weill-Marchesani syndrome (disorder) [SNOMED CT concept]
- weill-marchesani syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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