pendred syndrome

Preferred Label : pendred syndrome;

MeSH synonym : deafness with goiter; goiter-deafness syndrome; thyroid hormonogenesis, genetic defect in, 2b; thyroid dyshormonogenesis 2b; hypothyroidism, congenital, due to dyshormonogenesis, 2b; pendred's syndrome; autosomal recessive sensorineural hearing impairment and goiter;

Details

Origin ID

C536648;

UMLS CUI

C0271829;

Automatic exact mappings (from CISMeF team)
- Dyshormogenetic goiter [ICD-10 Sub-category]
- Dyshormogenetic goitre [ICD-10 Sub-category (who)]
- Pendred syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Pendred Syndrome [DO Concept]
- Pendred Syndrome [NCIt concept]
- Pendred syndrome [PASCAL descriptor]
- Pendred syndrome [Disease (Nov.)]
- Pendred syndrome [ICD-11 Sub-sub category]
- Pendred syndrome [OMIM Phenotype]
- Pendred syndrome [ORDO Disease]
- Pendred's syndrome (disorder) [SNOMED CT concept]
- pendred's syndrome [SNOMED Notion]
DO Cross reference
- Pendred Syndrome [DO Concept]
MeSH term(s) associated for indexing
- goiter, nodular [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
ORDO relation(s)
- Pendred syndrome [ORDO Disease]
Record concept(s)
- Pendred syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pendred Syndrome [DO Concept]
- Pendred Syndrome [NCIt concept]
- Pendred syndrome [ORDO Disease]
- Pendred syndrome [OMIM Phenotype]
- Pendred syndrome [PASCAL descriptor]
- Pendred syndrome [Disease (Nov.)]
- Pendred syndrome [ICD-11 Sub-sub category]
- Pendred syndrome [MedDRA Preferred Term]
- Pendred's syndrome (disorder) [SNOMED CT concept]
- pendred's syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

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