Mesomelic dysplasia of hypoplastic ulna and fibula type

disorder

SNOMED 715472000CUI C1860616

Overview

Mesomelic dysplasia of hypoplastic ulna and fibula type 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 morphology of ulna

Very frequent (80-99%)HP:0040071

Abnormal tibia morphology

Very frequent (80-99%)HP:0002992

Micromelia

Very frequent (80-99%)HP:0002983

Radial-head subluxation

Very frequent (80-99%)HP:0003048

Short fibula

Very frequent (80-99%)HP:0003038

Short stature, severe disproportionate

Very frequent (80-99%)HP:0003498

Short ulna

Very frequent (80-99%)HP:0003022

Skin dimples

Very frequent (80-99%)HP:0010781

Ulnar Drift

Very frequent (80-99%)HP:0009465

Ulnohumeral dislocation

Very frequent (80-99%)HP:0003042

Fusion of wrist bones

Frequent (30-79%)HP:0005048

Near sighted

Occasional (5-29%)HP:0000545

Squint

Occasional (5-29%)HP:0000486

Related Conditions

Autosomal dominant hereditary disorder(parent)

Mesomelic dysplasia(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Small stature(parent)

Congenital hypoplasia of fibula(parent)

Congenital hypoplasia of ulna(parent)

Quick Facts

SNOMED CT: 715472000
UMLS CUI: C1860616
Fully Specified Name: Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.