Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome

disorder

SNOMED 721882001CUI C4303670

Overview

Radioulnar synostosis with amegakaryocytic thrombocytopenia 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.

Bilateral fifth digit clinodactyly

Very frequent (80-99%)HP:0004209

Fused forearm bones

Very frequent (80-99%)HP:0002974

Amegakaryocytic thrombocytopenia

Frequent (30-79%)HP:0004859

Abnormal formation of the hip

Occasional (5-29%)HP:0001385

Partial syndactyly

Occasional (5-29%)HP:0006101

Sensorineural deafness

Occasional (5-29%)HP:0000407

Related Conditions

Autosomal dominant hereditary disorder(parent)

Inherited platelet disorder(parent)

Amegakaryocytic thrombocytopenia with congenital malformation(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Congenital radioulnar synostosis(parent)

Quick Facts

SNOMED CT: 721882001
UMLS CUI: C4303670
Fully Specified Name: Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 6

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.