Pendred Syndrome

Preferred Label : Pendred Syndrome;

NCIt definition : A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition.;

Details

Origin ID

C121745;

UMLS CUI

C0271829;

Automatic exact mappings (from CISMeF team)
- Dyshormogenetic goiter [ICD-10 Sub-category]
- Pendred syndrome [MedDRA Preferred Term]
- solute carrier family 26 member 4 [HGNC gene]
Currated CISMeF NLP mapping
- Pendred Syndrome [DO Concept]
- Pendred syndrome [ICD-11 Sub-sub category]
- Pendred syndrome [MeSH concept]
- Pendred syndrome [OMIM Phenotype]
- Pendred syndrome [ORDO Disease]
- Pendred syndrome [PASCAL descriptor]
- Pendred syndrome [Disease (Nov.)]
- Pendred's syndrome (disorder) [SNOMED CT concept]
- pendred syndrome [MeSH Supplementary Concept]
- pendred's syndrome [SNOMED Notion]
DO Cross reference
- Pendred Syndrome [DO Concept]
Has associated anatomic sites
- Head and Neck [NCIt concept]
- Neck [NCIt concept]
- Thyroid Gland [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pendred Syndrome [DO Concept]
- Pendred syndrome [ORDO Disease]
- Pendred syndrome [PASCAL descriptor]
- Pendred syndrome [OMIM Phenotype]
- Pendred syndrome [MeSH concept]
- Pendred syndrome [Disease (Nov.)]
- Pendred syndrome [ICD-11 Sub-sub category]
- Pendred syndrome [MedDRA Preferred Term]
- Pendred's syndrome (disorder) [SNOMED CT concept]
- pendred syndrome [MeSH Supplementary Concept]
- pendred's syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Thyroid Gland Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Thyroid Gland [NCIt concept]
disease_mapped_to_gene
- SLC26A4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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