Thyroid Peroxidase Deficiency

Preferred Label : Thyroid Peroxidase Deficiency;

Alternative definition : NICHD: Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.;

Details

Origin ID

C121750;

UMLS CUI

C1291299;

Currated CISMeF NLP mapping
- Deficiency of iodide peroxidase (disorder) [SNOMED CT concept]
- Thyroid dyshormonogenesis 2a [OMIM Phenotype]
- thyroid dyshormonogenesis 2A [MeSH Supplementary Concept]
- thyroid dyshormonogenesis 2A [DO Concept]
- thyroid dyshormonogenesis 2A [MeSH concept]
Has associated anatomic sites
- Head and Neck [NCIt concept]
- Neck [NCIt concept]
- Thyroid Gland [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of iodide peroxidase (disorder) [SNOMED CT concept]
- Thyroid dyshormonogenesis 2a [OMIM Phenotype]
- thyroid dyshormonogenesis 2A [MeSH Supplementary Concept]
- thyroid dyshormonogenesis 2A [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Thyroid Gland Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Thyroid Gland [NCIt concept]
disease_mapped_to_gene
- TPO Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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