Congenital Isolated Thyroid Stimulating Hormone Deficiency

Preferred Label : Congenital Isolated Thyroid Stimulating Hormone Deficiency;

NCIt synonyms : Congenital TSH Deficiency;

NCIt related terms : Congenital Isolated TSH Deficiency;

NCIt definition : Thyroid stimulating hormone (TSH) deficiency associated with mutations(s) in the TSHB gene that encodes thyrotropin subunit beta.;

Alternative definition : NICHD: Thyroid stimulating hormone (TSH) deficiency associated with mutation(s) in the TSHB gene that encodes thyrotropin subunit beta .;

Details

Origin ID

C120449;

UMLS CUI

C4055195;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
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- TSHB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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