Terminology Service < Semantic Lookup Platform

Congenital Hypothyroidism

http://purl.bioontology.org/ontology/MESH/D003409

A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.

Tree view

Instance info

Synonyms

Kongenitale Hypothyreose (DE), Cretinism, Hypothyroidism, Congenital, Cretinism, Endemic, Angeborene Hypothyreose (DE), Kretinismus (DE), Myxödem, angeborenes (DE), Fetal Iodine Deficiency Disorder, Endemischer Kretinismus (DE), Myxedema, Congenital, Myxödem, kongenitales (DE), Endemic Cretinism

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

20060101

D009230

2006 (1966)

MDA

19990101

MMR

20130708

C05.116.132.256,C19.874.482.281,C19.297.155,C16.320.240.625,C05.116.099.343.347

2006; see CRETINISM 1966-2005

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/D009230,http://purl.bioontology.org/ontology/MESH/D007037

SIB

http://purl.bioontology.org/ontology/MESH/D050336,http://purl.bioontology.org/ontology/MESH/D010002,http://purl.bioontology.org/ontology/MESH/D056846,http://purl.bioontology.org/ontology/MESH/D009230,http://purl.bioontology.org/ontology/MESH/D003057,http://purl.bioontology.org/ontology/MESH/D000130,http://purl.bioontology.org/ontology/MESH/D056730,http://purl.bioontology.org/ontology/MESH/D000172,http://purl.bioontology.org/ontology/MESH/D004393,http://purl.bioontology.org/ontology/MESH/D046150,http://purl.bioontology.org/ontology/MESH/D005877

TERMUI

T602761,T602680,T812321,T009916,T009915

GHR (2014),NLM (2006),OMIM (2013),NLM (1966),NLM (1998)

cui

C0010308,C1578691,C0342200

hasSTY

http://purl.bioontology.org/ontology/STY/T047,http://purl.bioontology.org/ontology/STY/T019

mapped from

http://purl.bioontology.org/ontology/MESH/C000603735,http://purl.bioontology.org/ontology/MESH/C536717,http://purl.bioontology.org/ontology/MESH/C564608,http://purl.bioontology.org/ontology/MESH/C565705,http://purl.bioontology.org/ontology/MESH/C563206,http://purl.bioontology.org/ontology/MESH/C565605,http://purl.bioontology.org/ontology/MESH/C564766,http://purl.bioontology.org/ontology/MESH/C567935,http://purl.bioontology.org/ontology/MESH/C562443,http://purl.bioontology.org/ontology/MESH/C564765,http://purl.bioontology.org/ontology/MESH/C562770,http://purl.bioontology.org/ontology/MESH/C566852,http://purl.bioontology.org/ontology/MESH/C567123,http://purl.bioontology.org/ontology/MESH/C567034,http://purl.bioontology.org/ontology/MESH/C536687,http://purl.bioontology.org/ontology/MESH/C576976,http://purl.bioontology.org/ontology/MESH/C537211

tui

T019,T047

Instance relations

Types

Class