Opsismodysplasia

disorder

SNOMED 254068007CUI C0432219

Overview

Opsismodysplasia 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.

Delayed maturation of end part of long bone

Always present (100%)HP:0002663

Metaphyseal cupping

Always present (100%)HP:0003021

Phalangeal hypoplasia

Always present (100%)HP:0009803

Severe platyspondyly

Always present (100%)HP:0004565

Short hands

Always present (100%)HP:0004279

Shortened long bones of hand

Always present (100%)HP:0010049

shortened long tubular bones

Always present (100%)HP:0003026

Small feet

Always present (100%)HP:0001773

Abnormal metaphysis morphology

Very frequent (80-99%)HP:0000944

Abnormally ossified vertebrae

Very frequent (80-99%)HP:0100569

Anomaly of the epiphyses

Very frequent (80-99%)HP:0005930

Brachydactyly

Very frequent (80-99%)HP:0001156

Concave bridge of nose

Very frequent (80-99%)HP:0005280

Delayed skeletal development

Very frequent (80-99%)HP:0002750

Frontal protuberance

Very frequent (80-99%)HP:0002007

Hypophosphataemia

Very frequent (80-99%)HP:0002148

Hypoplastic ischii

Very frequent (80-99%)HP:0003175

Hypoplastic pubis

Very frequent (80-99%)HP:0003173

Hypoplastic vertebral bodies

Very frequent (80-99%)HP:0008479

Increased size of skull

Very frequent (80-99%)HP:0000256

Nasal hypoplasia

Very frequent (80-99%)HP:0003196

Protruding eyes

Very frequent (80-99%)HP:0000520

Respiratory function loss

Very frequent (80-99%)HP:0002093

Shallow eye sockets

Very frequent (80-99%)HP:0000586

Short stature, severe

Very frequent (80-99%)HP:0003510

Square iliac bones

Very frequent (80-99%)HP:0003177

Tapering fingers

Very frequent (80-99%)HP:0001182

Tubular phosphate reabsorption low

Very frequent (80-99%)HP:0000117

Wide bregma sutures

Very frequent (80-99%)HP:0000239

Central hypotonia

Frequent (30-79%)HP:0001252

Related Conditions

Spondyloepimetaphyseal disorder(parent)

Quick Facts

SNOMED CT: 254068007
UMLS CUI: C0432219
Fully Specified Name: Opsismodysplasia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.