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Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor
disorderSNOMED 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
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.