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Spondyloepimetaphyseal dysplasia aggrecan type
disorderSNOMED 719165004CUI C2748544
Overview
Spondyloepimetaphyseal dysplasia aggrecan type 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.
Hypotrophic malar bone
Always present (100%)HP:0000272
Low-set ears
Always present (100%)HP:0000369
Short finger
Always present (100%)HP:0009381
Agenesis of nasal bridge
Very frequent (80-99%)HP:0005285
Barrel chest
Very frequent (80-99%)HP:0001552
Brachydactyly
Very frequent (80-99%)HP:0001156
Broad thumbs
Very frequent (80-99%)HP:0011304
Hypertrophy of mandible
Very frequent (80-99%)HP:0000303
Hypotrophic midface
Very frequent (80-99%)HP:0011800
Increased lumbar lordosis
Very frequent (80-99%)HP:0002938
Loose-jointedness
Very frequent (80-99%)HP:0001382
Mesomelia
Very frequent (80-99%)HP:0003027
Nail disease
Very frequent (80-99%)HP:0001597
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Relatively large head
Very frequent (80-99%)HP:0004482
Rhizomelic limb shortening
Very frequent (80-99%)HP:0008905
Short neck
Very frequent (80-99%)HP:0000470
Husky voice
Frequent (30-79%)HP:0001609
Respiratory problem
Frequent (30-79%)HP:0002795
Bronchospasm
HP:4000007
Flattened vertebral bodies
HP:0000926
Irregular end part of long bone
HP:0010582
Spondyloepimetaphyseal dysplasia
HP:0002651
Widened metaphyses
HP:0003016
Quick Facts
- SNOMED CT
- 719165004
- UMLS CUI
- C2748544
- Fully Specified Name
- Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.