Progressive pseudorheumatoid arthropathy of childhood

Preferred Label : Progressive pseudorheumatoid arthropathy of childhood;

ICD-11 definition : Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED. Typically, there are no symptoms in the newborn period. The most common signs at diagnosis are bowing of the legs, muscle weakness, symmetric swelling of the proximal interphalangeal joints. Motion range limitation, deformities and pain develop gradually, and spread to other joints. Many patients have spinal involvement manifesting as exaggerated lumbar lordosis, thoracic kyphosis, and/or scoliosis.;

Details

Origin ID

280808713;

UMLS CUI

C0432215;

Currated CISMeF NLP mapping
- Arthropathy, progressive pseudorheumatoid, of childhood [MeSH concept]
- Progressive Pseudorheumatoid Dysplasia [NCIt concept]
- Progressive pseudorheumatoid arthropathy of childhood [ORDO Disease]
- Progressive pseudorheumatoid dysplasia [OMIM Phenotype]
- arthropathy, progressive pseudorheumatoid, of childhood [MeSH Supplementary Concept]
- progressive pseudorheumatoid arthropathy of childhood [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthropathy, progressive pseudorheumatoid, of childhood [MeSH concept]
- Progressive Pseudorheumatoid Dysplasia [NCIt concept]
- 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]

Keyword's position in hierarchy(ies) :

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