Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome

disorder

SNOMED 721207002CUI C2748572

Overview

Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance 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.

Elevated serum bicarbonate concentration

Always present (100%)HP:0032067

Hypokalemic metabolic alkalosis

Always present (100%)HP:0001960

Renal potassium wasting

Always present (100%)HP:0000128

Abnormal urinary electrolyte concentration

Very frequent (80-99%)HP:0012591

Ataxia

Very frequent (80-99%)HP:0001251

Epilepsy

Very frequent (80-99%)HP:0001250

Generalised-onset seizure

Very frequent (80-99%)HP:0002197

Hyperaldosteronism

Very frequent (80-99%)HP:0000859

Hypomagnesemia

Very frequent (80-99%)HP:0002917

Increased plasma renin

Very frequent (80-99%)HP:0000848

Low blood potassium levels

Very frequent (80-99%)HP:0002900

Mental deficiency

Very frequent (80-99%)HP:0001249

Metabolic alkalosis

Very frequent (80-99%)HP:0200114

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Renal magnesium wasting

Very frequent (80-99%)HP:0005567

Renal Na wasting

Very frequent (80-99%)HP:0012606

Salt craving

Very frequent (80-99%)HP:0030083

Salt wasting

Very frequent (80-99%)HP:0000127

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Action tremor

Frequent (30-79%)HP:0002345

Enuresis

Frequent (30-79%)HP:0000805

Extreme thirst

Frequent (30-79%)HP:0001959

Atrophic cerebellum

Occasional (5-29%)HP:0001272

Axonal neuropathy

Occasional (5-29%)HP:0003477

Decreased body height

Occasional (5-29%)HP:0004322

Gait disturbance

Occasional (5-29%)HP:0001288

Inability to walk

Occasional (5-29%)HP:0002540

Lower limb muscle weakness

Occasional (5-29%)HP:0007340

Nonverbal

Occasional (5-29%)HP:0001344

Peripheral hypomyelination

Occasional (5-29%)HP:0007182

Related Conditions

Sensorineural hearing loss(parent)

Recessive hereditary disorder (autosomal)(parent)

Renal tubular disorder(parent)

Seizure disorder(parent)

Hereditary nephropathy(parent)

Hereditary ataxia(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 721207002
UMLS CUI: C2748572
Fully Specified Name: Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (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.