Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Congenital hypothyroidism
Synonyms
Definitions

Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth.

ID

http://www.orpha.net/ORDO/Orphanet_442

definition

Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=442

has_age_of_onset

Antenatal

Neonatal

has_inheritance

Autosomal recessive

hasDbXref

ICD-11:5A00.0

MedDRA:10010510

MeSH:D003409

UMLS:C0010308

label

Congenital hypothyroidism

notation

Category

ORPHA:442

prefixIRI

ORDO:Orphanet_442

prefLabel

Congenital hypothyroidism

present_in

Specific population AND has_birth_prevalence_average_value : 37.3 AND has_birth_prevalence_range : 1-5 / 10 000

United States AND has_birth_prevalence_range : 1-5 / 10 000

Germany AND has_point_prevalence_range : 1-5 / 10 000

Turkey AND has_birth_prevalence_average_value : 43.0 AND has_birth_prevalence_range : 1-5 / 10 000

Poland AND has_birth_prevalence_average_value : 25.0 AND has_birth_prevalence_range : 1-5 / 10 000

Australia AND has_point_prevalence_range : 1-5 / 10 000

New Zealand AND has_point_prevalence_range : 1-5 / 10 000

Brazil AND has_birth_prevalence_average_value : 73.35 AND has_birth_prevalence_range : 6-9 / 10 000

Poland AND has_point_prevalence_range : 1-5 / 10 000

Italy AND has_birth_prevalence_average_value : 45.5 AND has_birth_prevalence_range : 1-5 / 10 000

Estonia AND has_point_prevalence_range : 1-5 / 10 000

Ireland AND has_birth_prevalence_average_value : 45.0 AND has_birth_prevalence_range : 1-5 / 10 000

Australia AND has_birth_prevalence_average_value : 35.4 AND has_birth_prevalence_range : 1-5 / 10 000

Lebanon AND has_birth_prevalence_average_value : 54.8 AND has_birth_prevalence_range : 1-5 / 10 000

United Arab Emirates AND has_birth_prevalence_average_value : 63.7 AND has_birth_prevalence_range : 6-9 / 10 000

Bahrain AND has_point_prevalence_range : 1-5 / 10 000

United States AND has_point_prevalence_average_value : 44.0 AND has_point_prevalence_range : 1-5 / 10 000

Iran, Islamic Republic of AND has_birth_prevalence_average_value : 150.0 AND has_birth_prevalence_range : >1 / 1000

Brazil AND has_annual_incidence_average_value : 97.0873 AND has_annual_incidence_range : 6-9 / 10 000

Greece AND has_birth_prevalence_average_value : 57.0 AND has_birth_prevalence_range : 6-9 / 10 000

Germany AND has_birth_prevalence_average_value : 30.2 AND has_birth_prevalence_range : 1-5 / 10 000

Taiwan, Province of China AND has_birth_prevalence_average_value : 50.2 AND has_birth_prevalence_range : 1-5 / 10 000

China AND has_birth_prevalence_average_value : 49.1 AND has_birth_prevalence_range : 1-5 / 10 000

Pakistan AND has_birth_prevalence_average_value : 62.5 AND has_birth_prevalence_range : 6-9 / 10 000

Cyprus AND has_birth_prevalence_average_value : 55.5 AND has_birth_prevalence_range : 1-5 / 10 000

Latvia AND has_birth_prevalence_average_value : 15.5 AND has_birth_prevalence_range : 1-5 / 10 000

Bangladesh AND has_birth_prevalence_average_value : 76.9 AND has_birth_prevalence_range : 6-9 / 10 000

Mexico AND has_birth_prevalence_average_value : 43.0 AND has_birth_prevalence_range : 1-5 / 10 000

Europe AND has_birth_prevalence_average_value : 38.0 AND has_birth_prevalence_range : 1-5 / 10 000

Thailand AND has_point_prevalence_range : 1-5 / 10 000

Czech Republic AND has_birth_prevalence_average_value : 34.76 AND has_birth_prevalence_range : 1-5 / 10 000

China AND has_point_prevalence_range : 1-5 / 10 000

Mexico AND has_point_prevalence_range : 1-5 / 10 000

Bosnia and Herzegovina AND has_birth_prevalence_average_value : 25.3 AND has_birth_prevalence_range : 1-5 / 10 000

Estonia AND has_birth_prevalence_average_value : 35.0 AND has_birth_prevalence_range : 1-5 / 10 000

United Kingdom AND has_point_prevalence_range : 1-5 / 10 000

France AND has_point_prevalence_range : 1-5 / 10 000

Latvia AND has_point_prevalence_range : 1-5 / 10 000

United Kingdom AND has_birth_prevalence_average_value : 57.0 AND has_birth_prevalence_range : 6-9 / 10 000

France AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000

Thailand AND has_birth_prevalence_average_value : 16.0 AND has_birth_prevalence_range : 1-5 / 10 000

Denmark AND has_birth_prevalence_average_value : 29.4 AND has_birth_prevalence_range : 1-5 / 10 000

New Zealand AND has_birth_prevalence_average_value : 36.0 AND has_birth_prevalence_range : 1-5 / 10 000

Europe AND has_point_prevalence_range : 1-5 / 10 000

Bahrain AND has_birth_prevalence_average_value : 33.7 AND has_birth_prevalence_range : 1-5 / 10 000

Bosnia and Herzegovina AND has_point_prevalence_range : 1-5 / 10 000

Turkey AND has_point_prevalence_range : 1-5 / 10 000

subClassOf

http://www.orpha.net/ORDO/Orphanet_181396

http://www.orpha.net/ORDO/Orphanet_90692

http://www.orpha.net/ORDO/Orphanet_557492

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_442 EFO SAME_URI
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 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018612 MONDO 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 HP LOOM
http://purl.obolibrary.org/obo/HP_0000851 UPHENO LOOM
http://purl.bioontology.org/ontology/LNC/MTHU025182 LOINC LOOM
http://nanbyodata.jp/ontology/NANDO_2200333 NANDO 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://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 DOID 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 DDSS 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
rgo:29831 GAMUTS LOOM
http://www.limics.org/hrdo/rdfns#pat_id_760 HRDO LOOM
http://purl.bioontology.org/ontology/MESH/D003409 MESH LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Hypothyroidism PEDTERM LOOM
http://www.gamuts.net/entity#congenital_hypothyroidism GAMUTS REST