thyroid dyshormonogenesis 5

Preferred Label : thyroid dyshormonogenesis 5;

MeSH note : mutation in DUOXA2;

MeSH synonym : thyroid hormonogenesis, genetic defect in, 5; hypothyroidism, congenital, due to dyshormonogenesis, 5;

Details

Origin ID

C562771;

UMLS CUI

C0342196;

Currated CISMeF NLP mapping
- Thyroid dyshormonogenesis 5 [OMIM Phenotype]
MeSH term(s) associated for indexing
- hypothyroidism [MeSH Descriptor]
- thyroid gland [MeSH Descriptor]
Record concept(s)
- thyroid dyshormonogenesis 5 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thyroglobulin synthesis defect (disorder) [SNOMED CT concept]
- Thyroid dyshormonogenesis 5 [OMIM Phenotype]
- thyroglobulin synthesis defect [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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