thyroid dyshormonogenesis 4

Preferred Label : thyroid dyshormonogenesis 4;

MeSH synonym : hypothyroidism, congenital, due to dyshormonogenesis, 4; thyroid hormonogenesis, genetic defect in, 4; deiodinase deficiency; iodotyrosine dehalogenase deficiency;

Details

Origin ID

C562770;

UMLS CUI

C0342195;

Automatic exact mappings (from CISMeF team)
- Iodotyrosine deiodination defect (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Deiodinase Deficiency [NCIt concept]
- Thyroid dyshormonogenesis 4 [OMIM Phenotype]
MeSH term(s) associated for indexing
- congenital hypothyroidism [MeSH Descriptor]
- hydrolases [MeSH Descriptor]
- iodide peroxidase [MeSH Descriptor]
Record concept(s)
- thyroid dyshormonogenesis 4 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deiodinase Deficiency [NCIt concept]
- Iodotyrosine deiodination defect (disorder) [SNOMED CT concept]
- Thyroid dyshormonogenesis 4 [OMIM Phenotype]
- iodotyrosine deiodination defect [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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