Dysosteosclerosis

disorder

SNOMED 254123002CUI C0432262

Overview

Dysosteosclerosis 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 deposits of calcium in the brain

Very frequent (80-99%)HP:0002514

Abnormal metaphysis morphology

Very frequent (80-99%)HP:0000944

Abnormality of the cranial nerves

Very frequent (80-99%)HP:0001291

Coarse metaphyseal trabecularization

Very frequent (80-99%)HP:0100670

Decreased body height

Very frequent (80-99%)HP:0004322

Delayed eruption of teeth

Very frequent (80-99%)HP:0000684

Dystrophic tooth enamel

Very frequent (80-99%)HP:0000682

Hypoplastic vertebral bodies

Very frequent (80-99%)HP:0008479

Increased bone mineral density

Very frequent (80-99%)HP:0011001

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Large head

Very frequent (80-99%)HP:0000256

Mental deficiency

Very frequent (80-99%)HP:0001249

Optic atrophy

Very frequent (80-99%)HP:0000648

Recurrent fractures

Very frequent (80-99%)HP:0002757

Thick craniofacial bones

Very frequent (80-99%)HP:0004493

vertebral endplate irregularity

Very frequent (80-99%)HP:0003301

VSD

Very frequent (80-99%)HP:0001629

Aplasia/Hypoplasia of the skin

Frequent (30-79%)HP:0008065

Abducens nerve paralysis

HP:0006897

Abnormal metaphyseal trabeculation

HP:0005089

Absent paranasal sinuses

HP:0002689

Biparietal bossing

HP:0000242

Blindness

HP:0000618

Broad femoral neck

HP:0006429

Broad ribs

HP:0000885

Bulging forehead

HP:0011220

Clavicular sclerosis

HP:0100923

Decreased projection of lower jaw

HP:0000347

Developmental regression

HP:0002376

Related Conditions

Dysplasia with increased bone density(parent)

Congenital anomaly of skeletal bone(parent)

Quick Facts

SNOMED CT: 254123002
UMLS CUI: C0432262
Fully Specified Name: Dysosteosclerosis (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.