Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Thyroid-stimulating hormone excess
Always present (100%)HP:0002925
Abdominal swelling
Very frequent (80-99%)HP:0003270
Abnormality of the face
Very frequent (80-99%)HP:0000271
Constipation
Very frequent (80-99%)HP:0002019
Decreased circulating T4 concentration
Very frequent (80-99%)HP:0031507
Hypothyroidism
Very frequent (80-99%)HP:0000821
Lingual hyperplasia
Very frequent (80-99%)HP:0000158
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Retarded growth
Very frequent (80-99%)HP:0001510
Small thyroid gland
Very frequent (80-99%)HP:0005990
Thickened facial skin with coarse facial features
Very frequent (80-99%)HP:0000280
Tiredness
Very frequent (80-99%)HP:0012378
Wide bregma sutures
Very frequent (80-99%)HP:0000239
Yellowing of the skin
Very frequent (80-99%)HP:0000952
Decreased body height
Frequent (30-79%)HP:0004322
Increased circulating thyroglobulin concentration
Frequent (30-79%)HP:0025484
Mental retardation, severe
Frequent (30-79%)HP:0010864
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Thyroid agenesis
Occasional (5-29%)HP:0008191
Bradycardia
HP:0001662
Congenital hypothyroidism
HP:0000851
Dry skin
HP:0000958
Feeding difficulties in infancy
HP:0008872
Heteropic thyroid gland
HP:0100028
High blood bilirubin levels
HP:0002904
Hoarse cry
HP:0001615
Hypothermia
HP:0002045
Languor
HP:0001254
Large posterior fontanelle
HP:0004491
Noisy breathing
HP:0010307
Related Conditions
Quick Facts
- SNOMED CT
- 367524008
- UMLS CUI
- C0151516
- Fully Specified Name
- Hypoplasia of thyroid (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.