Hypothyroidism, congenital, nongoitrous, 3

Preferred Label : Hypothyroidism, congenital, nongoitrous, 3;

Symbol : CHNG3;

CISMeF acronym : CHNG3; RTSH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thyrotropin resistance; RTSH; Resistance to thyrotropin;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of congenital nongoitrous hypothyroidism, see 275200.;

Prefixed ID : #609893;

Details

Origin ID

609893;

UMLS CUI

C2940785;

Automatic exact mappings (from CISMeF team)
- Peripheral resistance to thyroid hormones [ORDO Disease]
- Thyroid hormone resistance syndrome (disorder) [SNOMED CT concept]
- Thyroid hormone responsiveness defect (disorder) [SNOMED CT concept]
- congenital nongoitrous hypothyroidism 3 [DO Concept]
Broader ORDO disease(s)
- Congenital hypothyroidism [ORDO Disease]
Currated CISMeF NLP mapping
- hypothyroidism, congenital, nongoitrous, 3 [MeSH concept]
- hypothyroidism, congenital, nongoitrous, 3 [MeSH Supplementary Concept]
DO Cross reference
- congenital nongoitrous hypothyroidism 3 [DO Concept]
Genes related to phenotype
- Short tandem repeat, tttg(4), thyroid-specific [OMIM gene]
ORDO concept(s)
- Peripheral resistance to thyroid hormones [ORDO Disease]
See also inter- (CISMeF)
- thyroid hormone resistance syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypothyroidism, congenital, nongoitrous, 3 [MeSH Supplementary Concept]
- hypothyroidism, congenital, nongoitrous, 3 [MeSH concept]

Keyword's position in hierarchy(ies) :

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