Hyperinsulinism due to insulin receptor deficiency

disorder

SNOMED 721235003CUI C4303474

Overview

Hyperinsulinism due to insulin receptor deficiency 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.

Hyperinsulinemia hypoglycemia

Always present (100%)HP:0000825

Abnormal circulating C-peptide concentration

Very frequent (80-99%)HP:0030794

Fasting hyperinsulinemia

Very frequent (80-99%)HP:0008283

Hypoglycemic episodes

Very frequent (80-99%)HP:0001988

Low blood sugar

Very frequent (80-99%)HP:0001943

Seizures

Frequent (30-79%)HP:0001250

Tiredness

Frequent (30-79%)HP:0012378

Body fails to respond to insulin

Occasional (5-29%)HP:0000855

Stupor

Occasional (5-29%)HP:0001259

Related Conditions

Autosomal dominant hereditary disorder(parent)

Digestive system hereditary disorder(parent)

Hereditary disorder of endocrine system(parent)

FHH - familial hyperinsulinemic hypoglycemia(parent)

Quick Facts

SNOMED CT: 721235003
UMLS CUI: C4303474
Fully Specified Name: Hyperinsulinism due to insulin receptor deficiency (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.