Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor

disorder

SNOMED 716743006CUI C4274306

Overview

Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor 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.

Activating TSHR defect

Always present (100%)HP:0011790

Hyperthyroidism

Always present (100%)HP:0000836

Birth weight less than 10th percentile

Very frequent (80-99%)HP:0001518

Diarrhea

Very frequent (80-99%)HP:0002014

Thyroid goiter

Very frequent (80-99%)HP:0000853

Thyroid hyperplasia

Very frequent (80-99%)HP:0008249

Thyrotoxicosis with diffuse goiter

Very frequent (80-99%)HP:0011784

tremors in hands

Very frequent (80-99%)HP:0002378

Weight loss

Very frequent (80-99%)HP:0001824

Early bone maturation

Frequent (30-79%)HP:0005616

hyperkinetic disorder

Frequent (30-79%)HP:0000752

No development of motor milestones

Frequent (30-79%)HP:0001270

Psychomotor agitation

Frequent (30-79%)HP:0000713

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Trouble sleeping

Frequent (30-79%)HP:0002360

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hyperthyroidism(parent)

Hereditary disorder of endocrine system(parent)

Quick Facts

SNOMED CT: 716743006
UMLS CUI: C4274306
Fully Specified Name: Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.