Thyroid hormone plasma membrane transport defect

Preferred Label : Thyroid hormone plasma membrane transport defect;

CISMeF acronym : DEFECT;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : DEFECT; Hyperthyroxinemia, eumetabolic, due to t4 plasma membrane transport; Thyroid hormone resistance due to t4 plasma membrane transport defect;

Inheritance : Autosomal dominant;

Prefixed ID : 188560;

Details

Origin ID

188560;

UMLS CUI

C1861101;

Automatic exact mappings (from CISMeF team)
- Defect [NCIt concept]
- Defect (morphologic abnormality) [SNOMED CT concept]
- defect, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- thyroid hormone plasma membrane transport defect [MeSH concept]
- thyroid hormone plasma membrane transport defect [MeSH Supplementary Concept]
False automatic mappings
- abnormalities [MeSH Qualifier]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Euthyroid hyperthyroxinemia [HPO term]
- Goiter [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- thyroid hormone plasma membrane transport defect [MeSH Supplementary Concept]
- thyroid hormone plasma membrane transport defect [MeSH concept]

Keyword's position in hierarchy(ies) :

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