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Pontocerebellar hypoplasia due to TBC1D23 mutation
disorderSNOMED 1300188000CUI C5922005
Overview
Pontocerebellar hypoplasia due to TBC1D23 mutation is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Related Conditions
Global developmental delay(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of nervous system(parent)
Congenital pontocerebellar hypoplasia(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 1300188000
- UMLS CUI
- C5922005
- Fully Specified Name
- Congenital pontocerebellar hypoplasia type 11 (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.