Pendred syndrome

ICD-11 code : 5A00.02;

Preferred Label : Pendred syndrome;

ICD-11 definition : Pendred syndrome is characterized by the association of congenital bilateral neurosensory deafness, thyroid goiter, cochleovestibular malformation and potential vestibular dysfunction.;

ICD-11 synonym : Goitre deafness; goitre-deafness syndrome;

Details

Origin ID

1156056623;

UMLS CUI

C0271829;

Automatic exact mappings (from CISMeF team)
- Pendred syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Pendred Syndrome [NCIt concept]
- Pendred Syndrome [DO Concept]
- 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]
ICD-10 Mapping
- Dyshormogenetic goiter [ICD-10 Sub-category]
See also inter- (CISMeF)
- Dyshormogenetic goiter [ICD-10 Sub-category]
- Dyshormonogenic goiter (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pendred Syndrome [DO Concept]
- Pendred Syndrome [NCIt concept]
- Pendred syndrome [OMIM Phenotype]
- Pendred syndrome [MeSH concept]
- Pendred syndrome [Disease (Nov.)]
- Pendred syndrome [ORDO Disease]
- Pendred syndrome [PASCAL descriptor]
- Pendred syndrome [MedDRA Preferred Term]
- Pendred's syndrome (disorder) [SNOMED CT concept]
- pendred syndrome [MeSH Supplementary Concept]
- pendred's syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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