thyroid dyshormonogenesis 2A

Preferred Label : thyroid dyshormonogenesis 2A;

MeSH note : mutation in Iodide Peroxidase;

MeSH synonym : hypothyroidism, congenital, due to dyshormonogenesis, 2A; thyroid hormonogenesis, genetic defect in, 2A; iodide peroxidase deficiency; thyroid peroxidase deficiency;

Details

Origin ID

C563206;

UMLS CUI

C1291299;

Currated CISMeF NLP mapping
- Deficiency of iodide peroxidase (disorder) [SNOMED CT concept]
- Thyroid Peroxidase Deficiency [NCIt concept]
- Thyroid dyshormonogenesis 2a [OMIM Phenotype]
- thyroid dyshormonogenesis 2A [DO Concept]
MeSH term(s) associated for indexing
- congenital hypothyroidism [MeSH Descriptor]
- iodide peroxidase [MeSH Descriptor]
Record concept(s)
- thyroid dyshormonogenesis 2A [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of iodide peroxidase (disorder) [SNOMED CT concept]
- Thyroid Peroxidase Deficiency [NCIt concept]
- Thyroid dyshormonogenesis 2a [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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