Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Congenital Hypothyroidism
Synonyms

Cretinism
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.
ID

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

Cretinism

Myxedema, Congenital

Cretinism, Endemic

Hypothyroidism, Congenital

Fetal Iodine Deficiency Disorder

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
cui

C0010308

C1578691

C0342200
DC

1
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.
DX

20060101
FX

D009230
HN

2006 (1966)
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469
Inverse of RO

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

http://purl.bioontology.org/ontology/MESH/D009230
Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D005877

http://purl.bioontology.org/ontology/MESH/D056846

http://purl.bioontology.org/ontology/MESH/D004393

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/D003057

http://purl.bioontology.org/ontology/MESH/D050336

http://purl.bioontology.org/ontology/MESH/D010002

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

http://purl.bioontology.org/ontology/MESH/D046150
Machine permutation

2006; see CRETINISM 1966-2005
Mapped from

http://purl.bioontology.org/ontology/MESH/C564608

http://purl.bioontology.org/ontology/MESH/C562770

http://purl.bioontology.org/ontology/MESH/C576976

http://purl.bioontology.org/ontology/MESH/C564765

http://purl.bioontology.org/ontology/MESH/C567034

http://purl.bioontology.org/ontology/MESH/C537211

http://purl.bioontology.org/ontology/MESH/C536717

http://purl.bioontology.org/ontology/MESH/C565705

http://purl.bioontology.org/ontology/MESH/C566852

http://purl.bioontology.org/ontology/MESH/C567935

http://purl.bioontology.org/ontology/MESH/C565605

http://purl.bioontology.org/ontology/MESH/C564766

http://purl.bioontology.org/ontology/MESH/C536687

http://purl.bioontology.org/ontology/MESH/C563206

http://purl.bioontology.org/ontology/MESH/C562443

http://purl.bioontology.org/ontology/MESH/C567123

http://purl.bioontology.org/ontology/MESH/C000603735
MDA

19990101
MMR

20130708
MN

C19.874.482.281

C16.320.240.625

C05.116.099.343.347

C19.297.155

C05.116.132.256
notation

D003409
prefLabel

Congenital Hypothyroidism
TERMUI

T009915

T009916

T602761

T602680

T812321
TH

NLM (2006)

NLM (1998)

NLM (1966)

OMIM (2013)

GHR (2014)
tui

T019

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D004392

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

http://purl.bioontology.org/ontology/MESH/D001849
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http://purl.obolibrary.org/obo/HP_0000851 Human Phenotype Ontology LOOM
http://purl.bioontology.org/ontology/LNC/LP56766-6 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/LP56766-6 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU038801 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/LNC/MTHU025182 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/MTHU025182 Logical Observation Identifier Names and Codes LOOM
http://purl.bmicc.cn/ontology/ICD10CN/E00 International Classification of Diseases, 10th Edition, China CUI
http://purl.bmicc.cn/ontology/ICD10CN/E00.9 International Classification of Diseases, 10th Edition, China CUI
http://purl.obolibrary.org/obo/DOID_0050328 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/ICD10CM/E03.1 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/E00.1 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/OMIM/MTHU003987 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/MTHU003987 Online Mendelian Inheritance in Man LOOM
http://purl.bmicc.cn/ontology/ICD11CN/5A00.0 International Classification of Diseases, 11th Edition, China LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26734 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/OMIM/228355 Online Mendelian Inheritance in Man CUI