loading...| Preferred Name |
Primary congenital hypothyroidism |
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| Synonyms |
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|
| Definitions |
Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_226295 |
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| definition |
Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=226295 |
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| hasDbXref |
UMLS:C3715197 |
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| label |
Primary congenital hypothyroidism |
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| notation |
ORPHA:226295 Clinical group |
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| prefixIRI |
ORDO:Orphanet_226295 |
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| prefLabel |
Primary congenital hypothyroidism |
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| present_in |
Europe AND has_point_prevalence_average_value : 37.5 AND has_point_prevalence_range : 1-5 / 10 000 Finland AND has_birth_prevalence_average_value : 33.0 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 58.62 AND has_birth_prevalence_range : 1-5 / 10 000 |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_226295 | EFO | SAME_URI | |
| http://www.ebi.ac.uk/efo/EFO_0700053 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0016409 | DOVES | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_19030 | HRDO | LOOM | |
| http://purl.bioontology.org/ontology/LNC/LA12538-7 | LOINC | LOOM |