Osteoporosis and oculocutaneous hypopigmentation syndrome

disorder

SNOMED 722113001CUI C1832592

Overview

Osteoporosis and oculocutaneous hypopigmentation 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.

Albinism

Very frequent (80-99%)HP:0001022

Decreased body height

Very frequent (80-99%)HP:0004322

Flattened vertebral bodies

Very frequent (80-99%)HP:0000926

Hunched back

Very frequent (80-99%)HP:0002808

Hypopigmentation of hair

Very frequent (80-99%)HP:0005599

Hypopigmentation of the skin

Very frequent (80-99%)HP:0001010

Impaired vision

Very frequent (80-99%)HP:0000505

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Near sighted

Very frequent (80-99%)HP:0000545

Osteoporosis

Very frequent (80-99%)HP:0000939

Paleness

Very frequent (80-99%)HP:0000980

Retinal disease

Very frequent (80-99%)HP:0000479

Related Conditions

Congenital oculocutaneous hypopigmentation(parent)

Recessive hereditary disorder (autosomal)(parent)

Dysplasia with decreased bone density(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of the visual system(parent)

Genetic disorder of skin pigmentation(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 722113001
UMLS CUI: C1832592
Fully Specified Name: Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.