Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome

disorder

SNOMED 782757004CUI C3809971

Overview

Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy 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.

Appendicular hypertonia

Always present (100%)HP:0002509

Bulbous tip of nose

Always present (100%)HP:0005274

Cerebellar vermis hypoplasia

Always present (100%)HP:0001320

Clonic seizure

Always present (100%)HP:0020221

Convergent squint

Always present (100%)HP:0020045

CVI

Always present (100%)HP:0100704

Decreased size of cranium

Always present (100%)HP:0000252

Dilated cerebral ventricle

Always present (100%)HP:0002119

Dilated fourth ventricle

Always present (100%)HP:0002198

Dilated third ventricle

Always present (100%)HP:0007082

Epilepsy

Always present (100%)HP:0001250

Eventration of the diaphragm

Always present (100%)HP:0009110

Feeding difficulties

Always present (100%)HP:0011968

Gastro-esophageal reflux

Always present (100%)HP:0002020

Generalised brain degeneration

Always present (100%)HP:0002283

Global developmental delay, severe

Always present (100%)HP:0011344

Hypoasparaginemia

Always present (100%)HP:0500157

Hypoplasia of the brainstem

Always present (100%)HP:0002365

Hypoplastic optic nerves

Always present (100%)HP:0000609

Intrauterine growth retardation, IUGR

Always present (100%)HP:0001511

Irritability

Always present (100%)HP:0000737

Legal blindness

Always present (100%)HP:0000618

Moderate to late preterm birth

Always present (100%)HP:0025664

Postnatal failure to thrive

Always present (100%)HP:0001508

Psychomotor development deficiency

Always present (100%)HP:0001263

Sleep apnea

Always present (100%)HP:0010535

Small cerebellum

Always present (100%)HP:0001321

Small skull present at birth

Always present (100%)HP:0011451

Spastic quadriplegia

Always present (100%)HP:0002510

Spasticity and rigidity of muscles

Always present (100%)HP:0001276

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Cerebral atrophy(parent)

Global developmental delay(parent)

Inborn error of amino acid metabolism(parent)

Hereditary degenerative disease of central nervous system(parent)

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

Inherited metabolic disorder of nervous system(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 782757004
UMLS CUI: C3809971
Fully Specified Name: Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy 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.