Medical Subject Headings

Last uploaded: January 31, 2024
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Preferred Name

Congenital Hypothyroidism
Synonyms

Fetal Iodine Deficiency Disorder

Endemic Cretinism

Myxedema, Congenital

Cretinism, Endemic

Hypothyroidism, Congenital

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

Fetal Iodine Deficiency Disorder

Endemic Cretinism

Myxedema, Congenital

Cretinism, Endemic

Hypothyroidism, Congenital

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

C0342200

C1578691

C0010308
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/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
Inverse of RO

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

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

2006; see CRETINISM 1966-2005
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
MDA

19990101
MMR

20130708
MN

C05.116.099.343.347

C16.320.240.625

C19.297.155

C19.874.482.281

C05.116.132.256
notation

D003409
prefLabel

Congenital Hypothyroidism
TERMUI

T009915

T009916

T812321

T602761

T602680
TH

OMIM (2013)

NLM (1966)

GHR (2014)

NLM (2006)

NLM (1998)
tui

T047

T019
subClassOf

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

http://purl.bioontology.org/ontology/MESH/D001849

http://purl.bioontology.org/ontology/MESH/D007037
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http://purl.bioontology.org/ontology/SNOMEDCT/64491003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10010510 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/D4-01836 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X40I8 RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/E00.1 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/75065003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/75065003 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D4-01830 SNMI CUI
http://purl.bioontology.org/ontology/MSHFRE/D003409 MSHFRE CUI
http://purl.bioontology.org/ontology/OMIM/228355 OMIM CUI
http://purl.bioontology.org/ontology/RCD/X40I6 RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/64491003 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D4-01834 SNMI CUI
http://purl.bioontology.org/ontology/MSHFRE/D003409 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10011381 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10021115 MDRGER CUI
http://purl.bioontology.org/ontology/LNC/LP56766-6 LOINC CUI
http://purl.bioontology.org/ontology/SCTSPA/190268003 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/C03.. RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10021115 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10010510 MEDDRA CUI
http://purl.bioontology.org/ontology/LNC/MTHU025182 LOINC CUI
http://purl.bioontology.org/ontology/OMIM/MTHU003987 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10011381 MDRFRE CUI
http://purl.bioontology.org/ontology/ICPC2P/T80007 ICPC2P CUI
http://purl.bioontology.org/ontology/NDFRT/N0000171688 NDFRT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/190268003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD9CM/243 ICD9CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10021115 MDRFRE CUI
http://purl.bioontology.org/ontology/WHOFRE/0800 WHOFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10010510 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-01830 SNMI CUI
http://purl.bioontology.org/ontology/ICPC2P/T86004 ICPC2P CUI
http://purl.bioontology.org/ontology/ICD10CM/E03.1 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10011381 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D003409 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/2928-6883 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/217710005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CST/CRETIN COSTART CUI
http://purl.bioontology.org/ontology/WHO/0800 WHO-ART CUI
http://purl.bioontology.org/ontology/OMIM/MTHU038801 OMIM CUI
http://purl.obolibrary.org/obo/DOID_0050328 DDSS LOOM
http://purl.obolibrary.org/obo/MONDO_0018612 MONDO LOOM
http://purl.obolibrary.org/obo/HP_0000851 HP LOOM
http://www.orpha.net/ORDO/Orphanet_442 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_760 HRDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200333 NANDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018612 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0050328 DOID LOOM
rgo:29831 GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003409 RH-MESH LOOM
http://purl.bioontology.org/ontology/LNC/LP56766-6 LOINC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Congenital_Hypothyroidism CSEO LOOM
http://purl.obolibrary.org/obo/MONDO_0018612 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26734 NCIT LOOM
http://purl.bioontology.org/ontology/RCTV2/C03..00 RCTV2 LOOM
http://purl.bioontology.org/ontology/RCD/C03.. RCD LOOM
http://purl.bioontology.org/ontology/MEDDRA/10010510 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIT_0004704 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.297.155 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.132.256 RH-MESH LOOM
http://purl.obolibrary.org/obo/HP_0000851 UPHENO LOOM
http://purl.bioontology.org/ontology/LNC/MTHU025182 LOINC LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU003987 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.240.625 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.347 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0221001 OCHV LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/190268003 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/ICD9CM/243 ICD9CM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037004 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.874.482.281 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_442 ORDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0342200 OCHV LOOM
http://purl.bioontology.org/ontology/ICPC2P/T86004 ICPC2P LOOM
http://purl.obolibrary.org/obo/DOID_0050328 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050328 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050328 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050328 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050328 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0050328 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C26734 BERO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Hypothyroidism PEDTERM LOOM