Microcephalus, brain defect, spasticity, hypernatraemia syndrome

disorder

SNOMED 770655004CUI C4749368

Overview

Microcephalus, brain defect, spasticity, hypernatraemia 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.

Cerebral cortex atrophy

Very frequent (80-99%)HP:0002120

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Intellectual impairment

Very frequent (80-99%)HP:0100543

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Laboratory abnormality

Very frequent (80-99%)HP:0001939

Single brain ventricle

Frequent (30-79%)HP:0001360

Related Conditions

Disease of skeletal muscle(parent)

Multiple system malformation syndrome(parent)

Sodium overload(parent)

Congenital hypoplasia of brain(parent)

Congenital microcephalus(parent)

Quick Facts

SNOMED CT: 770655004
UMLS CUI: C4749368
Fully Specified Name: Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 6

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.