Chondrodysplasia Punctata

Preferred Label : Chondrodysplasia Punctata;

NCIt related terms : Chondrodysplasia Punctata (Stippled Epiphyses) Group;

NCIt definition : A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.;

Details

Origin ID

C84632;

UMLS CUI

C0008445;

Currated CISMeF NLP mapping
- Chondrodysplasia punctata [PASCAL descriptor]
- Chondrodysplasia punctata [ICD-10 Sub-category]
- Chondrodysplasia punctata [ICD-11 Sub-sub category]
- Chondrodysplasia punctata [ICD-10 Sub-category (who)]
- Chondrodysplasia punctata [ORDO Disease]
- Chondrodysplasia punctata (disorder) [Inactive SNOMED CT concept]
- Chondrodysplasia punctata (stippled epiphyses) group (disorder) [SNOMED CT concept]
- chondrodysplasia punctata [DO Concept]
- chondrodysplasia punctata [Disease (Nov.)]
- chondrodysplasia punctata [MeSH Descriptor]
- chondrodysplasia punctata [MeSH concept]
- chondrodysplasia punctata, nos [SNOMED Notion]
DO Cross reference
- chondrodysplasia punctata [DO Concept]
See also inter- (CISMeF)
- Chondrodysplasia punctata syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chondrodysplasia punctata [ORDO Disease]
- Chondrodysplasia punctata [ICD-10 Sub-category]
- Chondrodysplasia punctata [PASCAL descriptor]
- Chondrodysplasia punctata [ICD-11 Sub-sub category]
- Chondrodysplasia punctata [MedDRA Preferred Term]
- Chondrodysplasia punctata [ICD-10 Sub-category (who)]
- 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 [DO Concept]
- chondrodysplasia punctata [Disease (Nov.)]
- chondrodysplasia punctata [MeSH concept]
- chondrodysplasia punctata [MeSH Descriptor]
- chondrodysplasia punctata, nos [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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