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Fibular aplasia and ectrodactyly syndrome

disorder
SNOMED 720952001CUI C4303759

Overview

Fibular aplasia and ectrodactyly 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.

Premature birth
Very frequent (80-99%)HP:0001622
Abnormal morphology of ulna
Frequent (30-79%)HP:0040071
Hypoplastic/aplastic fibulae
Frequent (30-79%)HP:0006492
Split hand
Frequent (30-79%)HP:0001171

Related Conditions

Autosomal dominant hereditary disorder(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Ectrodactyly(parent)
Dysostosis(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Aplasia of fibula(parent)

Quick Facts

SNOMED CT
720952001
UMLS CUI
C4303759
Fully Specified Name
Aplasia of fibula and ectrodactyly syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
4
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.