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Congenital hypoplasia of ulna and intellectual disability syndrome
disorderSNOMED 719842006CUI C4304398
Overview
Congenital hypoplasia of ulna and intellectual disability 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.
Absent toenails (anonychia)
Very frequent (80-99%)HP:0001802
Anonychia of fingernails
Very frequent (80-99%)HP:0001817
Delayed closure of the fontanelles
Very frequent (80-99%)HP:0000270
Dull intelligence
Very frequent (80-99%)HP:0001249
Hypoplasia of the ulna
Very frequent (80-99%)HP:0003022
Intoe
Very frequent (80-99%)HP:0001840
Large bregma sutures
Very frequent (80-99%)HP:0000239
Mesomelia
Very frequent (80-99%)HP:0003027
Micromelia
Very frequent (80-99%)HP:0002983
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Radial ray hypoplasia
Very frequent (80-99%)HP:0002984
Radiohumeral dislocation
Very frequent (80-99%)HP:0003042
Short stature, severe
Very frequent (80-99%)HP:0003510
Specific learning disability
Very frequent (80-99%)HP:0001328
Stiff joint
Very frequent (80-99%)HP:0001387
Talipes foot deformities
Very frequent (80-99%)HP:0001883
Ulnar Drift
Very frequent (80-99%)HP:0009465
Broad bone of big toe
Frequent (30-79%)HP:0010059
Broad thumbs
Frequent (30-79%)HP:0011304
Quick Facts
- SNOMED CT
- 719842006
- UMLS CUI
- C4304398
- Fully Specified Name
- Congenital hypoplasia of ulna and intellectual disability syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
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.