Chondrodysplasia punctata

Preferred Label : Chondrodysplasia punctata;

ICD-10 exclusion note : Rhizomelic chondrodysplasia punctata (E71.43);

Diag associé à un acte (%) : 100.0;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q773;

UMLS CUI

C0008445;

Currated CISMeF NLP mapping
- Chondrodysplasia Punctata [NCIt concept]
- Chondrodysplasia punctata [ORDO Disease]
- Chondrodysplasia punctata [PASCAL descriptor]
- Chondrodysplasia punctata [ICD-10 Sub-category (who)]
- Chondrodysplasia punctata [ICD-11 Sub-sub category]
- Chondrodysplasia punctata (disorder) [Inactive SNOMED CT concept]
- Chondrodysplasia punctata (stippled epiphyses) group (disorder) [SNOMED CT concept]
- chondrodysplasia punctata [MeSH concept]
- chondrodysplasia punctata [MeSH Descriptor]
- chondrodysplasia punctata [DO Concept]
- chondrodysplasia punctata [Disease (Nov.)]
- chondrodysplasia punctata, nos [SNOMED Notion]
DO Cross reference
- X-linked chondrodysplasia punctata 1 [DO Concept]
- autosomal dominant chondrodysplasia punctata [DO Concept]
- chondrodysplasia punctata [DO Concept]
- rhizomelic chondrodysplasia punctata type 1 [DO Concept]
- rhizomelic chondrodysplasia punctata type 2 [DO Concept]
- rhizomelic chondrodysplasia punctata type 3 [DO Concept]
Manual NTBT mappings (CISMeF)
- Astley-Kendall dysplasia [ORDO Disease]
- Dappled diaphyseal dysplasia [ORDO Disease]
- Greenberg dysplasia [ORDO Disease]
- Non-rhizomelic chondrodysplasia punctata [ORDO Disease]
Orphanet concepts
- Astley-Kendall dysplasia [ORDO Disease]
- Brachytelephalangic chondrodysplasia punctata [ORDO Disease]
- Chondrodysplasia punctata [ORDO Disease]
- Chondrodysplasia punctata, Sheffield type [ORDO Disease]
- Chondrodysplasia punctata, Toriello type [ORDO Disease]
- Chondrodysplasia punctata, tibial-metacarpal type [ORDO Disease]
- Dappled diaphyseal dysplasia [ORDO Disease]
- Greenberg dysplasia [ORDO Disease]
- Multiple epiphyseal dysplasia [ORDO Disease]
- Multiple epiphyseal dysplasia due to collagen 9 anomaly [ORDO Disease]
- Multiple epiphyseal dysplasia type 1 [ORDO Disease]
- Multiple epiphyseal dysplasia type 4 [ORDO Disease]
- Multiple epiphyseal dysplasia type 5 [ORDO Disease]
- Multiple epiphyseal dysplasia, Al-Gazali type [ORDO Disease]
- Multiple epiphyseal dysplasia, Beighton type [ORDO Disease]
- Multiple epiphyseal dysplasia, with miniepiphyses [ORDO Disease]
- Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia [ORDO Disease]
- Non-rhizomelic chondrodysplasia punctata [ORDO Disease]
- Rhizomelic chondrodysplasia punctata [ORDO Disease]
- Rhizomelic chondrodysplasia punctata type 1 [ORDO Disease]
- Rhizomelic chondrodysplasia punctata type 2 [ORDO Disease]
- Rhizomelic chondrodysplasia punctata type 3 [ORDO Disease]
- X-linked dominant chondrodysplasia punctata [ORDO Disease]
See also inter- (CISMeF)
- Chondrodysplasia punctata syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chondrodysplasia Punctata [NCIt concept]
- Chondrodysplasia punctata [ORDO Disease]
- Chondrodysplasia punctata [PASCAL descriptor]
- Chondrodysplasia punctata [ICD-11 Sub-sub category]
- Chondrodysplasia punctata [MedDRA Preferred Term]
- Chondrodysplasia punctata (disorder) [Inactive SNOMED CT concept]
- Chondrodysplasia punctata (stippled epiphyses) group (disorder) [SNOMED CT concept]
- Chondrodysplasia punctata congenita (disorder) [SNOMED CT concept]
- chondrodysplasia punctata [MeSH Descriptor]
- chondrodysplasia punctata [MeSH concept]
- chondrodysplasia punctata [DO Concept]
- chondrodysplasia punctata [Disease (Nov.)]
- chondrodysplasia punctata, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- X-linked chondrodysplasia punctata 1 [DO Concept]
- autosomal dominant chondrodysplasia punctata [DO Concept]
- rhizomelic chondrodysplasia punctata type 1 [DO Concept]
- rhizomelic chondrodysplasia punctata type 2 [DO Concept]
- rhizomelic chondrodysplasia punctata type 3 [DO Concept]

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