Overview
Ulna metaphyseal dysplasia syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal morphology of ulna
Very frequent (80-99%)HP:0040071
Abnormality of the hips
Very frequent (80-99%)HP:0003272
Absent/underdeveloped radius
Very frequent (80-99%)HP:0006501
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Abnormal fibula morphology
Frequent (30-79%)HP:0002991
Abnormal metacarpal morphology
Frequent (30-79%)HP:0005916
Abnormal vertebral bodies
Frequent (30-79%)HP:0003312
Decreased body height
Frequent (30-79%)HP:0004322
Decreased width of tooth
Occasional (5-29%)HP:0000691
Dental problems
Occasional (5-29%)HP:0000164
Kidney stones
Occasional (5-29%)HP:0000787
Misshapened teeth
Occasional (5-29%)HP:0006482
Retruded nasal dorsum
Occasional (5-29%)HP:0000457
Voice abnormality
Occasional (5-29%)HP:0001608
Abnormality of the vertebral column
HP:0000925
Coxa valga deformity
HP:0002673
Hypercalcemia
HP:0003072
Wrist pain
HP:0030836
Quick Facts
- SNOMED CT
- 715242008
- UMLS CUI
- C1860615
- Fully Specified Name
- Ulna metaphyseal dysplasia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.