Medical Subject Headings

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/MESH/D003409
http://purl.bioontology.org/ontology/MESH/D003409
Preferred Name

Congenital Hypothyroidism
Definitions
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.
Synonyms
Fetal Iodine Deficiency Disorder
Endemic Cretinism
Myxedema, Congenital
Cretinism, Endemic
Hypothyroidism, Congenital
Cretinism
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

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.
altLabel
Fetal Iodine Deficiency Disorder
Endemic Cretinism
Myxedema, Congenital
Cretinism, Endemic
Hypothyroidism, Congenital
Cretinism
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prefLabel
Congenital Hypothyroidism
TH
OMIM (2013)
NLM (1966)
GHR (2014)
NLM (2006)
NLM (1998)
notation
D003409
DX
20060101
Machine permutation
2006; see CRETINISM 1966-2005
MN
C05.116.099.343.347
C16.320.240.625
C19.297.155
C19.874.482.281
C05.116.132.256
FX
D009230
MMR
20130708
Mapped from
http://purl.bioontology.org/ontology/MESH/C563206
http://purl.bioontology.org/ontology/MESH/C000603735
http://purl.bioontology.org/ontology/MESH/C565605
http://purl.bioontology.org/ontology/MESH/C536687
http://purl.bioontology.org/ontology/MESH/C562770
http://purl.bioontology.org/ontology/MESH/C536717
http://purl.bioontology.org/ontology/MESH/C566852
http://purl.bioontology.org/ontology/MESH/C537211
http://purl.bioontology.org/ontology/MESH/C564765
http://purl.bioontology.org/ontology/MESH/C564766
http://purl.bioontology.org/ontology/MESH/C567935
http://purl.bioontology.org/ontology/MESH/C567123
http://purl.bioontology.org/ontology/MESH/C562443
http://purl.bioontology.org/ontology/MESH/C565705
http://purl.bioontology.org/ontology/MESH/C576976
http://purl.bioontology.org/ontology/MESH/C564608
http://purl.bioontology.org/ontology/MESH/C567034
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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
HN
2006 (1966)
subClassOf
Semantic type UMLS property
DC
1
MDA
19990101
Inverse of RO
type
tui
T047
T019
cui
C0342200
C1578691
C0010308
Inverse of AQ
http://purl.bioontology.org/ontology/MESH/Q000097
http://purl.bioontology.org/ontology/MESH/Q000178
http://purl.bioontology.org/ontology/MESH/Q000175
http://purl.bioontology.org/ontology/MESH/Q000628
http://purl.bioontology.org/ontology/MESH/Q000276
http://purl.bioontology.org/ontology/MESH/Q000134
http://purl.bioontology.org/ontology/MESH/Q000139
http://purl.bioontology.org/ontology/MESH/Q000266
http://purl.bioontology.org/ontology/MESH/Q000378
http://purl.bioontology.org/ontology/MESH/Q000517
http://purl.bioontology.org/ontology/MESH/Q000662
http://purl.bioontology.org/ontology/MESH/Q000469
http://purl.bioontology.org/ontology/MESH/Q000150
http://purl.bioontology.org/ontology/MESH/Q000821
http://purl.bioontology.org/ontology/MESH/Q000191
http://purl.bioontology.org/ontology/MESH/Q000196
http://purl.bioontology.org/ontology/MESH/Q000473
http://purl.bioontology.org/ontology/MESH/Q000145
http://purl.bioontology.org/ontology/MESH/Q000382
http://purl.bioontology.org/ontology/MESH/Q000451
http://purl.bioontology.org/ontology/MESH/Q000453
http://purl.bioontology.org/ontology/MESH/Q000534
http://purl.bioontology.org/ontology/MESH/Q000532
http://purl.bioontology.org/ontology/MESH/Q000503
http://purl.bioontology.org/ontology/MESH/Q000188
http://purl.bioontology.org/ontology/MESH/Q000235
http://purl.bioontology.org/ontology/MESH/Q000201
http://purl.bioontology.org/ontology/MESH/Q000209
http://purl.bioontology.org/ontology/MESH/Q000208
http://purl.bioontology.org/ontology/MESH/Q000601
http://purl.bioontology.org/ontology/MESH/Q000000981
http://purl.bioontology.org/ontology/MESH/Q000652
http://purl.bioontology.org/ontology/MESH/Q000523
http://purl.bioontology.org/ontology/MESH/Q000401
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TERMUI
T009915
T009916
T812321
T602761
T602680
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