Overview
Congenital absence of thyroid gland 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.
Hypothyroidism
Always present (100%)HP:0000821
Thyroid-stimulating hormone excess
Always present (100%)HP:0002925
Decreased circulating T4 concentration
Very frequent (80-99%)HP:0031507
Small thyroid gland
Very frequent (80-99%)HP:0005990
Increased circulating thyroglobulin concentration
Frequent (30-79%)HP:0025484
Thyroid agenesis
Occasional (5-29%)HP:0008191
Aberrant thyroid
HP:0100028
Belly bloating
HP:0003270
Bradycardia
HP:0001662
Central hypotonia
HP:0001252
Congenital hypothyroidism
HP:0000851
Delayed skeletal development
HP:0002750
Dry skin
HP:0000958
Dyschezia
HP:0002019
Feeding difficulties in infancy
HP:0008872
Growth failure
HP:0001510
High blood bilirubin levels
HP:0002904
Hoarse cry
HP:0001615
Hypothermia
HP:0002045
Inactivity
HP:0001254
Large posterior fontanelle
HP:0004491
Lingual hyperplasia
HP:0000158
Stridor
HP:0010307
Thyroid goiter
HP:0000853
Umbilical hernia
HP:0001537
Quick Facts
- SNOMED CT
- 92978002
- UMLS CUI
- C0749420
- Fully Specified Name
- Congenital absence of thyroid gland (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.