hypothyroidism, congenital, nongoitrous, 2

Preferred Label : hypothyroidism, congenital, nongoitrous, 2;

MeSH note : also known as CHNG2; associated with mutatins in PAX8;

MeSH synonym : hypothyroidism, congenital, due to thyroid dysgenesis; athyreotic hypothyroidism; hypothyroidism, athyreotic;

Is substance : O;

Details

Origin ID

C566852;

UMLS CUI

C1869118;

Currated CISMeF NLP mapping
- Hypothyroidism, congenital, nongoitrous, 2 [OMIM Phenotype]
- Thyroid Dysgenesis [NCIt concept]
- congenital nongoitrous hypothyroidism 2 [DO Concept]
MeSH term(s) associated for indexing
- congenital hypothyroidism [MeSH Descriptor]
- thyroid dysgenesis [MeSH Descriptor]
Record concept(s)
- hypothyroidism, congenital, nongoitrous, 2 [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Hypothyroidism, congenital, nongoitrous, 2 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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