COASY gene related pontocerebellar hypoplasia

disorder

SNOMED 1300190004CUI C5922007

Overview

COASY gene related pontocerebellar hypoplasia is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Related Conditions

Fetus with hereditary disease(parent)

Spinal cord hypoplasia(parent)

Arthrogryposis multiplex congenita(parent)

Inherited arthrogryposis(parent)

Hereditary disorder of nervous system(parent)

Fetal microcephaly(parent)

Congenital pontocerebellar hypoplasia(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Extrapyramidal disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Spinocerebellar disease(parent)

Quick Facts

SNOMED CT: 1300190004
UMLS CUI: C5922007
Fully Specified Name: Congenital pontocerebellar hypoplasia type 12 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0

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.