Overview
Lethal recessive chondrodysplasia 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.
Early bone maturation
Always present (100%)HP:0005616
Flared elbow metaphyses
Always present (100%)HP:0003950
Increased bone density in skeletal bones
Always present (100%)HP:0005789
Low chest circumference
Always present (100%)HP:0000774
Short limbs
Always present (100%)HP:0009826
shortened long tubular bones
Always present (100%)HP:0003026
Hydramnios
Very frequent (80-99%)HP:0001561
Hypoplastic mandible condyle
Very frequent (80-99%)HP:0000347
Edema
Frequent (30-79%)HP:0000969
Laboured breathing
Frequent (30-79%)HP:0002098
Lingual hyperplasia
Frequent (30-79%)HP:0000158
Micromelia
Frequent (30-79%)HP:0002983
Quick Facts
- SNOMED CT
- 719404009
- UMLS CUI
- C4304745
- Fully Specified Name
- Lethal recessive chondrodysplasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 12
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.