Familial porencephalic cyst

disorder

SNOMED 1162864000CUI C1867983

Overview

Familial porencephalic cyst 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.

Dilated Virchow-Robin spaces

Always present (100%)HP:0012520

Leukoencephalopathy

Always present (100%)HP:0002352

Tortuous retinal arterioles

Always present (100%)HP:0001136

Cavity within brain

Very frequent (80-99%)HP:0002132

Cerebral hemorrhage

Frequent (30-79%)HP:0001342

Hemiparesis

Frequent (30-79%)HP:0001269

Migraine with aura

Frequent (30-79%)HP:0002077

Dystonic disease

Occasional (5-29%)HP:0001332

Extensor plantar responses

Occasional (5-29%)HP:0003487

Focal seizures

Occasional (5-29%)HP:0007359

Nonprogressive mental retardation

Occasional (5-29%)HP:0001249

Paralysis on one side of body

Occasional (5-29%)HP:0002301

Retinal bleeding

Occasional (5-29%)HP:0000573

Seizures

Occasional (5-29%)HP:0001250

Abnormal curving of the cornea or lens of the eye

Very rare (1-4%)HP:0000483

Cataract, congenital

Very rare (1-4%)HP:0000519

Corectopia

Very rare (1-4%)HP:0009918

Cornea of eye less than 10mm in diameter

Very rare (1-4%)HP:0000482

Corneal vascularization

Very rare (1-4%)HP:0011496

Decreased visual acuity

Very rare (1-4%)HP:0007663

Glaucoma

Very rare (1-4%)HP:0000501

Hyperopia

Very rare (1-4%)HP:0000540

Iris hypoplasia

Very rare (1-4%)HP:0007676

Nanophthalmos

Very rare (1-4%)HP:0000568

Peripapillary atrophy

Very rare (1-4%)HP:0500087

Polycoria

Very rare (1-4%)HP:0011500

Scarring or clouding of the cornea of the eye

Very rare (1-4%)HP:0007957

Atrophic cerebellum

HP:0001272

Blurred vision

HP:0000622

Cortical dysplasia

HP:0002539

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Porencephalic cyst(parent)

Quick Facts

SNOMED CT: 1162864000
UMLS CUI: C1867983
Fully Specified Name: Familial porencephaly (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.