Deiodinase Deficiency

Preferred Label : Deiodinase Deficiency;

NCIt related terms : Dehalogenase Deficiency;

Alternative definition : NICHD: Presumed loss-of-function mutation(s) in the IYD gene, resulting in reduced activity of the enzyme iodotyrosine deiodinase.;

Details

Origin ID

C131435;

UMLS CUI

C0342195;

Automatic exact mappings (from CISMeF team)
- thyroid dyshormonogenesis 4 [DO Concept]
Currated CISMeF NLP mapping
- Thyroid dyshormonogenesis 4 [OMIM Phenotype]
- thyroid dyshormonogenesis 4 [MeSH Supplementary Concept]
- thyroid dyshormonogenesis 4 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Iodotyrosine deiodination defect (disorder) [SNOMED CT concept]
- Thyroid dyshormonogenesis 4 [OMIM Phenotype]
- iodotyrosine deiodination defect [SNOMED Notion]
- thyroid dyshormonogenesis 4 [MeSH Supplementary Concept]
- thyroid dyshormonogenesis 4 [MeSH concept]
Validated automatic mappings to NTBT
- Iodotyrosine deiodination defect (disorder) [SNOMED CT concept]
- iodotyrosine deiodination defect [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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