Cholestanol storage disease

disorder

SNOMED 63246000CUI C0238052

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Ankle clonus

Always present (100%)HP:0011448

EEG: generalized slow activity

Always present (100%)HP:0010845

Elevated CSF cholestanol concentration

Always present (100%)HP:6000203

Lower limb muscle weakness

Always present (100%)HP:0007340

Supratentorial atrophy

Always present (100%)HP:0002059

Xanthomatosis

Always present (100%)HP:0000991

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Impaired vision

Very frequent (80-99%)HP:0000505

Juvenile cataract

Very frequent (80-99%)HP:0001118

Abnormal auditory evoked potentials

Frequent (30-79%)HP:0006958

Abnormal globus pallidus morphology

Frequent (30-79%)HP:0002453

Abnormal motor evoked potentials

Frequent (30-79%)HP:0012896

Abnormal tibia morphology

Frequent (30-79%)HP:0002992

Abnormal visual evoked responses

Frequent (30-79%)HP:0000649

Abnormalities of the fingers

Frequent (30-79%)HP:0001167

Abnormality of retina blood vessels

Frequent (30-79%)HP:0008046

Abnormality of somatosensory evoked potentials

Frequent (30-79%)HP:0007377

Abnormality of the calcaneal tendon

Frequent (30-79%)HP:0005109

Abnormality of the cerebellar peduncle

Frequent (30-79%)HP:0011931

Ataxia

Frequent (30-79%)HP:0001251

Behavioral symptoms

Frequent (30-79%)HP:0000708

Cavus foot

Frequent (30-79%)HP:0001761

Cerebellar signs

Frequent (30-79%)HP:0001317

Chronic diarrhoea

Frequent (30-79%)HP:0002028

Cognitive deficits

Frequent (30-79%)HP:0100543

Corticospinal signs

Frequent (30-79%)HP:0007256

Damaged optic nerve

Frequent (30-79%)HP:0001138

Decreased nerve conduction velocity

Frequent (30-79%)HP:0000762

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Distal muscle atrophy, upper and lower limbs

Frequent (30-79%)HP:0003693

Related Conditions

Xanthomatosis(parent)

Recessive hereditary disorder (autosomal)(parent)

Disorder of cholesterol catabolism(parent)

Synthetic defect of bile acids(parent)

Hereditary degenerative disease of central nervous system(parent)

Inherited metabolic disorder of nervous system(parent)

Leucodystrophy(parent)

Quick Facts

SNOMED CT: 63246000
UMLS CUI: C0238052
Fully Specified Name: Cholestanol storage disease (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.