Cerebral folate transport deficiency

disorder

SNOMED 711403001CUI C2751584

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Neurodegeneration

HP:0002180

Poor school performance

HP:0001249

Psychomotor regression

HP:0002376

Seizures

HP:0001250

Related Conditions

Folic acid deficiency (non anemic)(parent)

Recessive hereditary disorder (autosomal)(parent)

Encephalopathy(parent)

Hereditary disorder of nervous system(parent)

Quick Facts

SNOMED CT: 711403001
UMLS CUI: C2751584
Fully Specified Name: Cerebral folate transport deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 4

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.