Weill-Marchesani Syndrome

Preferred Label : Weill-Marchesani Syndrome;

NCIt definition : A rare, autosomal recessive or dominant inherited connective tissue disorder. The autosomal recessive variant is caused by mutations in the ADAMTS10 gene. 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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