Overview
Familial thyroid dyshormonogenesis 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.
Decreased circulating T4 concentration
Very frequent (80-99%)HP:0031507
Thyroid-stimulating hormone excess
Very frequent (80-99%)HP:0002925
Anomaly of the epiphyses
Frequent (30-79%)HP:0005930
Congenital hypothyroidism
Frequent (30-79%)HP:0000851
Constipation
Frequent (30-79%)HP:0002019
Delayed closure of the fontanelles
Frequent (30-79%)HP:0000270
Delayed ossification proximal femoral epiphyses
Frequent (30-79%)HP:0008828
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Jaundice, neonatal
Frequent (30-79%)HP:0006579
Large posterior fontanelle
Frequent (30-79%)HP:0004491
Neurodevelopmental delay
Frequent (30-79%)HP:0012758
Thyroid defect in oxidation and organification of iodide
Frequent (30-79%)HP:0008263
Thyroid goiter
Frequent (30-79%)HP:0000853
Umbilical hernia
Frequent (30-79%)HP:0001537
Abnormal circulating thyroglobulin concentration
Occasional (5-29%)HP:0025483
Bradycardia
Occasional (5-29%)HP:0001662
Central hypotonia
Occasional (5-29%)HP:0001252
Facial swelling
Occasional (5-29%)HP:0000282
Flat nasal bridge
Occasional (5-29%)HP:0005280
Hyperbilirubinemia, neonatal
Occasional (5-29%)HP:0003265
Hyporeflexia
Occasional (5-29%)HP:0001265
Hypothermia
Occasional (5-29%)HP:0002045
Increased radioactive iodine uptake
Occasional (5-29%)HP:0031220
Languor
Occasional (5-29%)HP:0001254
Lingual hyperplasia
Occasional (5-29%)HP:0000158
Low intelligence
Occasional (5-29%)HP:0001249
Positive perchlorate discharge test
Occasional (5-29%)HP:0025482
Reduced radioactive iodine uptake
Occasional (5-29%)HP:0031219
Sensorineural deafness
Very rare (1-4%)HP:0000407
Quick Facts
- SNOMED CT
- 718183003
- UMLS CUI
- C4273748
- Fully Specified Name
- Familial thyroid dyshormonogenesis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.