hypothyroidism, congenital, nongoitrous, 1

Preferred Label : hypothyroidism, congenital, nongoitrous, 1;

MeSH note : also known as CHNG 1; associated with mutations oITSHR;

MeSH synonym : hypothyroidism, congenital, due to tsh resistance; Thyroid-Stimulating hormone, resistance to; hypothyroidism due to unresponsiveness to thyrotropin; hypothyroidism, nonautoimmune;

Is substance : O;

Details

Origin ID

C576976;

UMLS CUI

C3493776;

Automatic exact mappings (from CISMeF team)
- Thyroid Stimulating Hormone Resistance [NCIt concept]
Currated CISMeF NLP mapping
- Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder) [SNOMED CT concept]
- Hypothyroidism, congenital, nongoitrous, 1 [OMIM Phenotype]
- congenital nongoitrous hypothyroidism 1 [DO Concept]
MeSH term(s) associated for indexing
- congenital hypothyroidism [MeSH Descriptor]
- receptors, thyrotropin [MeSH Descriptor]
Record concept(s)
- hypothyroidism, congenital, nongoitrous, 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder) [SNOMED CT concept]
- Hypothyroidism, congenital, nongoitrous, 1 [OMIM Phenotype]
- Thyroid Stimulating Hormone Resistance [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients