weill-marchesani syndrome - CISMeF

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CISMeF

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Weill-marchesani syndromeSNOMED Notion

Preferred Label : weill-marchesani syndrome;

Details

Origin ID

D4-00D13;

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 [NCIt concept]
- Weill-Marchesani syndrome [PASCAL descriptor]
- Weill-Marchesani syndrome [DO Concept]
- Weill-Marchesani syndrome [MeSH Descriptor]
- Weill-Marchesani syndrome [MeSH concept]
- Weill-Marchesani syndrome [MedDRA Preferred Term]
- Weill-Marchesani syndrome [ORDO Disease]
- Weill-Marchesani syndrome (disorder) [SNOMED CT concept]
- Weill-marchesani syndrome [OMIM phenotypic series]
ICD-10 exact mapping(s)
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Acromelic dysplasia [ORDO Disease]
- Chondrodysplastic malformation syndrome [ORDO Disease]
- Lens size anomaly [ORDO Disease]
- Rare disease with glaucoma as a major feature [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Weill-Marchesani syndrome (disorder) [SNOMED CT 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 [NCIt concept]
- Weill-Marchesani syndrome [ORDO Disease]
- Weill-Marchesani syndrome [MeSH concept]
- Weill-Marchesani syndrome [DO Concept]
- Weill-Marchesani syndrome [PASCAL descriptor]
- Weill-Marchesani syndrome [MeSH Descriptor]
- Weill-Marchesani syndrome [MedDRA Preferred Term]
- Weill-Marchesani syndrome (disorder) [SNOMED CT concept]

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20/06/2025

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