Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Congenital neurosensory deafness
Always present (100%)HP:0008527
Dilated vestibular aqueduct
Very frequent (80-99%)HP:0011387
Hypoplastic cochlea
Very frequent (80-99%)HP:0008586
Inner ear abnormality
Very frequent (80-99%)HP:0000359
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Hypothyroidism
Frequent (30-79%)HP:0000821
Increased circulating thyroglobulin concentration
Frequent (30-79%)HP:0025484
Thyroid goiter
Frequent (30-79%)HP:0000853
Abnormal vocalization
Occasional (5-29%)HP:0002167
Ataxia
Occasional (5-29%)HP:0001251
Hyperparathyroidism
Occasional (5-29%)HP:0000843
Kidney disease
Occasional (5-29%)HP:0000112
Low intelligence
Occasional (5-29%)HP:0001249
Narrowing of windpipe
Occasional (5-29%)HP:0002777
Respiratory function loss
Occasional (5-29%)HP:0002093
Thyroid carcinoma
Occasional (5-29%)HP:0002890
Vertigo
Occasional (5-29%)HP:0002321
Cochlear malformation
HP:0008554
Interictal vestibular dysfunction
HP:0001751
Mild hypothyroidism
HP:0008223
Related Conditions
Inherited disorder of thyroid metabolism(parent)
Recessive hereditary disorder (autosomal)(parent)
Congenital sensorineural hearing loss(parent)
Goiter(parent)
Congenital anomaly of ear with impairment of hearing(parent)
Developmental hereditary disorder(parent)
Congenital anomaly of vestibule of inner ear(parent)
Hereditary hearing loss(parent)
Quick Facts
- SNOMED CT
- 70348004
- UMLS CUI
- C0271829
- Fully Specified Name
- Pendred's syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
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.