Progressive encephalopathy with severe infantile anorexia

disorder

SNOMED 715794009CUI C4275006

Overview

Progressive encephalopathy with severe infantile anorexia 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.

Anorexia

Always present (100%)HP:0002039

Low body weight

Always present (100%)HP:0004325

Poor weight gain

Always present (100%)HP:0001508

Progressive encephalopathy

Always present (100%)HP:0002448

Abnormality of brainstem morphology

Very frequent (80-99%)HP:0002363

Abnormality of the basal ganglia

Very frequent (80-99%)HP:0002134

Abnormality of the posterior fossa

Very frequent (80-99%)HP:0000932

Ataxia

Very frequent (80-99%)HP:0001251

Brainstem atrophy

Very frequent (80-99%)HP:0007366

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Abnormal auditory evoked potentials

Frequent (30-79%)HP:0006958

Eye movement issue

Frequent (30-79%)HP:0000496

Apnea

Occasional (5-29%)HP:0002104

Laryngeal abnormalities

Occasional (5-29%)HP:0001600

Related Conditions

Leucodystrophy(parent)

Quick Facts

SNOMED CT: 715794009
UMLS CUI: C4275006
Fully Specified Name: Progressive encephalopathy with severe infantile anorexia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.