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Progressive pseudorheumatoid dysplasia

disorder
SNOMED 254065005CUI C0432215

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Flattened vertebral bodies
Very frequent (80-99%)HP:0000926
Joint swelling
Very frequent (80-99%)HP:0001386
Narrow small joints of the hand
Very frequent (80-99%)HP:0004267
Polyarticular arthropathy
Very frequent (80-99%)HP:0005195
Spondyloepiphyseal dysplasia
Very frequent (80-99%)HP:0002655
vertebral endplate irregularity
Very frequent (80-99%)HP:0003301
Waddling gait
Very frequent (80-99%)HP:0002515
Abnormality of hand joint mobility
Frequent (30-79%)HP:0006256
Abnormality of the elbow
Frequent (30-79%)HP:0009811
Abnormality of the hip joints
Frequent (30-79%)HP:0001384
Abnormality of the knee
Frequent (30-79%)HP:0002815
anterior wedging
Frequent (30-79%)HP:0008422
Arthralgias
Frequent (30-79%)HP:0002829
Camptodactyly
Frequent (30-79%)HP:0012385
Contractures of the hands
Frequent (30-79%)HP:0009473
Decreased body height
Frequent (30-79%)HP:0004322
Dorsolumbar kyphosis
Frequent (30-79%)HP:0003423
Hyperconvex vertebral body endplates
Frequent (30-79%)HP:0004603
Infancy onset short-trunk short stature
Frequent (30-79%)HP:0011406
Irregularity of vertebral bodies
Frequent (30-79%)HP:0004582
Limitation of joint mobility
Frequent (30-79%)HP:0001376
Muscle weakness
Frequent (30-79%)HP:0001324
Scoliosis
Frequent (30-79%)HP:0002650
Tired easily
Frequent (30-79%)HP:0003388
Wrist swelling
Frequent (30-79%)HP:0001225
Abnormality of the neck
Occasional (5-29%)HP:0000464
Abnormality of the shoulder
Occasional (5-29%)HP:0003043
Beaking of vertebral bodies
Occasional (5-29%)HP:0004568
Broad femoral neck
Occasional (5-29%)HP:0006429
Coxa vara
Occasional (5-29%)HP:0002812

Quick Facts

SNOMED CT
254065005
UMLS CUI
C0432215
Fully Specified Name
Progressive pseudorheumatoid dysplasia (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.