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PVH - Periventricular heterotopia

disorder
SNOMED 448227009CUI C1848213

Overview

PVH - Periventricular heterotopia 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.

Curvature of digit
Always present (100%)HP:0030084
Hematopoietic maturation arrest
Always present (100%)HP:0033606
Hemorrhagic stroke
Always present (100%)HP:0001342
Predisposition to infections
Always present (100%)HP:0002719
Short finger
Always present (100%)HP:0009381
Small cerebellum
Always present (100%)HP:0001321
Syndactyly
Always present (100%)HP:0001159
Thinning of the corpus callosum
Always present (100%)HP:0033725
Bicuspid aortic valve
Occasional (5-29%)HP:0001647
Cerebral vascular events
Occasional (5-29%)HP:0001297
Hypoplasia of corpus callosum
Occasional (5-29%)HP:0002079
PDA
Occasional (5-29%)HP:0001643
Squint
Occasional (5-29%)HP:0000486
Abnormality of neuronal migration
HP:0002269
Abnormality of the coagulation cascade
HP:0003256
Epilepsy
HP:0001250
Gray matter heterotopias
HP:0002282
Mental retardation, mild
HP:0001256

Quick Facts

SNOMED CT
448227009
UMLS CUI
C1848213
Fully Specified Name
X-linked periventricular heterotopia (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
18
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.