Progressive Pseudorheumatoid Dysplasia

Preferred Label : Progressive Pseudorheumatoid Dysplasia;

NCIt synonyms : PPRD;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the CCN6 gene, encoding cellular communication network factor 6. It is a progressive arthropathy that clinically resembles rheumatoid arthritis but differs in its radiological appearance.;

Details

Origin ID

C202612;

UMLS CUI

C0432215;

Currated CISMeF NLP mapping
- Arthropathy, progressive pseudorheumatoid, of childhood [MeSH concept]
- Progressive pseudorheumatoid arthropathy of childhood [ICD-11 More detail]
- Progressive pseudorheumatoid arthropathy of childhood [ORDO Disease]
- Progressive pseudorheumatoid dysplasia [OMIM Phenotype]
- Progressive pseudorheumatoid dysplasia (disorder) [SNOMED CT concept]
- arthropathy, progressive pseudorheumatoid, of childhood [MeSH Supplementary Concept]
- progressive pseudorheumatoid arthropathy of childhood [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthropathy, progressive pseudorheumatoid, of childhood [MeSH concept]
- Progressive pseudorheumatoid arthropathy of childhood [ICD-11 More detail]
- Progressive pseudorheumatoid dysplasia [OMIM Phenotype]
- Progressive pseudorheumatoid dysplasia (disorder) [SNOMED CT concept]
- arthropathy, progressive pseudorheumatoid, of childhood [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CCN6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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