Absent tibia polydactyly syndrome

disorder

SNOMED 764857004CUI C4707180

Overview

Absent tibia polydactyly 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.

Abnormal fibula morphology

Very frequent (80-99%)HP:0002991

Aplasia/Hypoplasia of the tibia

Very frequent (80-99%)HP:0005772

Decreased body height

Very frequent (80-99%)HP:0004322

Patellar aplasia

Very frequent (80-99%)HP:0006443

Aplastic/hypoplastic thumbs

Frequent (30-79%)HP:0009601

Fusion of wrist bones

Frequent (30-79%)HP:0005048

Related Conditions

Multiple malformation syndrome with limb defect as major feature(parent)

Dysostosis(parent)

Congenital dysplasia of limb(parent)

Abnormality of limb bone morphology(parent)

Quick Facts

SNOMED CT: 764857004
UMLS CUI: C4707180
Fully Specified Name: Tibial hemimelia, polysyndactyly, triphalangeal thumb 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.