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Congenital deafness with split hands and feet
disorderSNOMED 723611008CUI C1857344
Overview
Congenital deafness with split hands and feet 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.
Foot ectrodactyly
Always present (100%)HP:0001839
Sensorineural deafness
Always present (100%)HP:0000407
Split hand
Always present (100%)HP:0001171
Frontal protuberance
Frequent (30-79%)HP:0002007
Scoliosis
Frequent (30-79%)HP:0002650
Short stature, severe
Frequent (30-79%)HP:0003510
Tapering fingers
Frequent (30-79%)HP:0001182
Related Conditions
Congenital cleft hand(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Sensorineural hearing loss(parent)
Recessive hereditary disorder (autosomal)(parent)
Split foot(parent)
Hearing loss associated with syndrome(parent)
Developmental hereditary disorder(parent)
Hereditary hearing loss(parent)
Quick Facts
- SNOMED CT
- 723611008
- UMLS CUI
- C1857344
- Fully Specified Name
- Split hand, split foot malformation with sensorineural hearing loss syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 7
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.