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Cardiomyopathy with cataract and hip spine disease syndrome

disorder
SNOMED 720609003CUI C2931548

Overview

Cardiomyopathy with cataract and hip spine disease 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.

Abnormal skeletal development
Very frequent (80-99%)HP:0002652
Abnormality of the intervertebral disc
Very frequent (80-99%)HP:0005108
Cardiomyopathy, hypertrophic
Very frequent (80-99%)HP:0001639
Flattened vertebral bodies
Very frequent (80-99%)HP:0000926
Lens opacities
Very frequent (80-99%)HP:0000518
Abnormal heart rate
Frequent (30-79%)HP:0011675
Cardiac insufficiency
Frequent (30-79%)HP:0001635
Death of bone due to decreased blood supply
Frequent (30-79%)HP:0010885
Osteoarthritis
Frequent (30-79%)HP:0002758
Stiff joint
Frequent (30-79%)HP:0001387
Valvular heart disease
Frequent (30-79%)HP:0001654
Blood clot in artery
Occasional (5-29%)HP:0004420
Blood clot in artery of lung
Occasional (5-29%)HP:0002204
High blood pressure
Occasional (5-29%)HP:0000822

Related Conditions

Recessive hereditary disorder (autosomal)(parent)
Cardiovascular system hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary disorder of the visual system(parent)
Disorder of joint of spine(parent)
Congestive cardiomyopathy(parent)
Nonsenile cataract(parent)
Disorder of hip joint(parent)

Quick Facts

SNOMED CT
720609003
UMLS CUI
C2931548
Fully Specified Name
Cardiomyopathy with cataract and hip spine disease syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
14
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.