Weill-Marchesani Syndrome

Preferred Label : Weill-Marchesani Syndrome;

NCIt definition : A rare, autosomal recessive or dominant inherited connective tissue disorder. It is characterized by abnormalities in the lens of the eye, short stature, brachydactyly, and joint stiffness.;

Details

Origin ID

C85226;

UMLS CUI

C0265313;

Currated CISMeF NLP mapping
- Marchesani syndrome (disorder) [Inactive SNOMED CT concept]
- Microspherophakia or Weill Marchesani Syndrome [ICD-11 More detail]
- Weill Marchesani syndrome [Disease (Nov.)]
- Weill-Marchesani syndrome [PASCAL descriptor]
- Weill-Marchesani syndrome [ACR pathology]
- 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 (disorder) [SNOMED CT concept]
- Weill-marchesani syndrome [OMIM phenotypic series]
- weill-marchesani syndrome [SNOMED Notion]
DO Cross reference
- Weill-Marchesani syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marchesani syndrome (disorder) [Inactive SNOMED CT concept]
- Microspherophakia or Weill Marchesani Syndrome [ICD-11 More detail]
- Weill Marchesani syndrome [Disease (Nov.)]
- Weill-Marchesani syndrome [ORDO Disease]
- Weill-Marchesani syndrome [PASCAL descriptor]
- Weill-Marchesani syndrome [DO Concept]
- Weill-Marchesani syndrome [MeSH concept]
- Weill-Marchesani syndrome [MedDRA Preferred Term]
- Weill-Marchesani syndrome [MeSH Descriptor]
- Weill-Marchesani syndrome (disorder) [SNOMED CT concept]
- weill-marchesani syndrome [SNOMED Notion]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- ADAMTS10 Gene [NCIt concept]
- ADAMTS17 Gene [NCIt concept]
- FBN1 Gene [NCIt concept]
- LTBP2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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