Hypothyroidism due to TSH receptor mutation

disorder

SNOMED 1230272009CUI C3493776

Overview

Hypothyroidism due to TSH receptor mutation 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.

TSHR defect

Always present (100%)HP:0011789

Congenital hypothyroidism

Very frequent (80-99%)HP:0000851

Thyroid-stimulating hormone excess

Very frequent (80-99%)HP:0002925

Decreased circulating T4 concentration

Frequent (30-79%)HP:0031507

Increased circulating thyroglobulin concentration

Frequent (30-79%)HP:0025484

Jaundice, neonatal

Frequent (30-79%)HP:0006579

Reduced radioactive iodine uptake

Frequent (30-79%)HP:0031219

Abnormal cry

Occasional (5-29%)HP:0025429

Anomaly of the epiphyses

Occasional (5-29%)HP:0005930

Bradycardia

Occasional (5-29%)HP:0001662

Constipation

Occasional (5-29%)HP:0002019

Delayed ossification proximal femoral epiphyses

Occasional (5-29%)HP:0008828

Feeding difficulties in infancy

Occasional (5-29%)HP:0008872

Hyperbilirubinemia, neonatal

Occasional (5-29%)HP:0003265

Hyporeflexia

Occasional (5-29%)HP:0001265

Increased radioactive iodine uptake

Occasional (5-29%)HP:0031220

Languor

Occasional (5-29%)HP:0001254

Large posterior fontanelle

Occasional (5-29%)HP:0004491

Lingual hyperplasia

Occasional (5-29%)HP:0000158

Mild hypothyroidism

Occasional (5-29%)HP:0008223

Small thyroid gland

Occasional (5-29%)HP:0005990

Umbilical hernia

Occasional (5-29%)HP:0001537

Edema

Very rare (1-4%)HP:0000969

Hypothermia

Very rare (1-4%)HP:0002045

Peripheral hypotonia

Very rare (1-4%)HP:0001252

Hypothyroidism

Excluded (<1%)HP:0000821

Thyroid goiter

Excluded (<1%)HP:0000853

Related Conditions

Autosomal hereditary disorder(parent)

Thyroid hormone responsiveness defect(parent)

Quick Facts

SNOMED CT: 1230272009
UMLS CUI: C3493776
Fully Specified Name: Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.