rhizomelic chondrodysplasia punctata syndrome - CISMeF

" /> rhizomelic chondrodysplasia punctata syndrome - CISMeF

CISMeF

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Rhizomelic chondrodysplasia punctata syndromeSNOMED Notion

Preferred Label : rhizomelic chondrodysplasia punctata syndrome;

Details

Origin ID

D4-00A62;

UMLS CUI

C0282529;

Currated CISMeF NLP mapping
- Rhizomelic Chondrodysplasia Punctata [NCIt concept]
- Rhizomelic chondrodysplasia punctata [ICD-11 More detail]
- Rhizomelic chondrodysplasia punctata [ORDO Disease]
- Rhizomelic chondrodysplasia punctata syndrome (disorder) [SNOMED CT concept]
- Rhizomelic chondrodysplasia punctata type 1 [ORDO Disease]
- Rhizomelic chondrodysplasia punctata, type 1 [OMIM Phenotype]
- chondrodysplasia punctata, rhizomelic [MeSH Descriptor]
- chondrodysplasia punctata, rhizomelic [MeSH concept]
- rhizomelic chondrodysplasia punctata [Disease (Nov.)]
- rhizomelic chondrodysplasia punctata [DO Concept]
ICD-10 exact mapping(s)
- Chondrodysplasia punctata [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Chondrodysplastic malformation syndrome [ORDO Disease]
- Metabolic disease with cataract [ORDO Disease]
- Musculoskeletal disease with cataract [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Rhizomelic chondrodysplasia punctata syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rhizomelic Chondrodysplasia Punctata [NCIt concept]
- Rhizomelic chondrodysplasia punctata [ORDO Disease]
- Rhizomelic chondrodysplasia punctata [ICD-11 More detail]
- Rhizomelic chondrodysplasia punctata syndrome (disorder) [SNOMED CT concept]
- chondrodysplasia punctata, rhizomelic [MeSH concept]
- chondrodysplasia punctata, rhizomelic [MeSH Descriptor]
- rhizomelic chondrodysplasia punctata [Disease (Nov.)]
- rhizomelic chondrodysplasia punctata [DO Concept]
Validated automatic mappings to BTNT
- rhizomelic chondrodysplasia punctata, type 1 [MeSH Supplementary Concept]

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14/06/2024

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