X-linked spondylometaphyseal dysplasia

disorder

SNOMED 773304004CUI C0796172

Overview

X-linked spondylometaphyseal dysplasia 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 nail morphology

HP:0001597

Abnormal vocalization

HP:0002167

Broad flat nasal bridge

HP:0000431

Flat nasal bridge

HP:0005280

Flattened vertebral bodies

HP:0000926

Flexion contractures of hips

HP:0003273

Flexion contractures of knees

HP:0006380

Hunched back

HP:0002808

Hyperextensible fingers

HP:0001187

HyperMineralization of skull base

HP:0002694

Increased distance between eyes

HP:0000316

Involuntary, rapid, rhythmic eye movements

HP:0000639

Mental retardation, mild

HP:0001256

Nostrils anteverted

HP:0000463

Pectus carinatum

HP:0000768

Prominent joints

HP:0003037

Psychomotor retardation, mild

HP:0011342

Respiratory failure

HP:0002878

Respiratory insufficiency

HP:0002093

Short stature, severe

HP:0003510

Spondylometaphyseal dysplasia

HP:0002657

Squint

HP:0000486

Stubby finger

HP:0009381

Tapering fingers

HP:0001182

Thickened facial skin with coarse facial features

HP:0000280

Thoracolumbar scoliosis

HP:0002944

Related Conditions

Spondylometaphyseal dysplasia(parent)

Congenital anomaly of skeletal bone(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 773304004
UMLS CUI: C0796172
Fully Specified Name: Spondylometaphyseal dysplasia Golden type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.