ehlers-danlos syndrome, procollagen proteinase deficient - CISMeF

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CISMeF

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Ehlers-danlos syndrome, procollagen proteinase deficientSNOMED Notion

Preferred Label : ehlers-danlos syndrome, procollagen proteinase deficient;

Details

Origin ID

D6-90170;

UMLS CUI

C0268345;

Currated CISMeF NLP mapping
- Ehlers Danlos syndrome type VII [Disease (Nov.)]
- Ehlers-Danlos Syndrome, Type VII [NCIt concept]
- Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, type VII, autosomal dominant [MeSH concept]
- Ehlers-Danlos syndrome, type VII, autosomal dominant [MeSH Supplementary Concept]
- Ehlers-danlos syndrome, arthrochalasia type, 1 [OMIM Phenotype]
ICD-10 exact mapping(s)
- Ehlers-Danlos syndrome [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- procollagen n-proteinase [SNOMED Notion]
SNOMED CT concept
- Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrochalasia Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers Danlos syndrome type VII [Disease (Nov.)]
- Ehlers-Danlos Syndrome, Type VII [NCIt concept]
- Ehlers-Danlos syndrome type 7A [ORDO Disease]
- Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, type VII, autosomal dominant [MeSH concept]
- Ehlers-danlos syndrome, arthrochalasia type, 1 [OMIM Phenotype]

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01/05/2025

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