Deficiency of leukotriene C4 synthase

disorder

SNOMED 717185008CUI C3279662

Overview

Deficiency of leukotriene C4 synthase 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.

Decreased size of cranium

HP:0000252

Failure to thrive in first year of life

HP:0001531

Mental and motor retardation

HP:0001263

Muscular hypotonia

HP:0001252

Reduced circulating leukotriene C4 concentration

HP:0030390

Related Conditions

Disorder of neurometabolic regulation(parent)

Recessive hereditary disorder (autosomal)(parent)

Specific enzyme deficiency(parent)

Hereditary disorder of endocrine system(parent)

Hereditary disorder of nervous system(parent)

Disorder of head(parent)

Quick Facts

SNOMED CT: 717185008
UMLS CUI: C3279662
Fully Specified Name: Deficiency of leukotriene C4 synthase (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 5

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.