Hereditary hyperferritinemia-cataract syndrome

disorder

SNOMED 702398007CUI C1833213

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.

Anterior subcapsular cataract

Always present (100%)HP:0010923

Increased ferritin

Always present (100%)HP:0003281

Laboratory abnormality

Very frequent (80-99%)HP:0001939

Lens opacities

Very frequent (80-99%)HP:0000518

Decreased transferrin saturation

Occasional (5-29%)HP:0012464

Pulverulent cataract

Occasional (5-29%)HP:0010693

Abnormal circulating iron concentration

Excluded (<1%)HP:0040130

Abnormal transferrin saturation

Excluded (<1%)HP:0040135

Nuclear cataract

HP:0100018

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of the visual system(parent)

Cataract(parent)

Quick Facts

SNOMED CT: 702398007
UMLS CUI: C1833213
Fully Specified Name: Hyperferritinemia cataract syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.