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

Decreased body weight

Always present (100%)HP:0004325

Postnatal failure to thrive

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.

Progressive encephalopathy with severe infantile anorexia — Symptoms, Testing & Specialists | Ltrl