Primary hypomagnesemia, refractory seizures, intellectual disability syndrome

disorder

SNOMED 1269236003CUI C5681271

Overview

Primary hypomagnesemia, refractory seizures, intellectual disability 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.

Autism spectrum disorder

Frequent (30-79%)HP:0000729

Delayed gross motor development

Frequent (30-79%)HP:0002194

Episodic hypokalemia

Frequent (30-79%)HP:0012726

Generalised-onset seizure

Frequent (30-79%)HP:0002197

Hypomagnesemia

Frequent (30-79%)HP:0002917

Increased calcium level in kidney

Frequent (30-79%)HP:0000121

Poor speech

Frequent (30-79%)HP:0002465

Prolonged seizure

Frequent (30-79%)HP:0002133

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Renal magnesium wasting

Frequent (30-79%)HP:0005567

Renal potassium wasting

Frequent (30-79%)HP:0000128

Small cerebrum

Frequent (30-79%)HP:0006872

Related Conditions

Seizure disorder(parent)

Global developmental delay(parent)

Primary hypomagnesemia(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1269236003
UMLS CUI: C5681271
Fully Specified Name: Primary hypomagnesemia, refractory seizures, intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.