loading...| Preferred Name | Permanent congenital hypothyroidism | |
| Synonyms |
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| Definitions |
Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_226292 |
|
| definition |
Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency 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=226292 |
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| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Not applicable Autosomal recessive |
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| hasDbXref |
UMLS:C5680893 ICD-11:5A00.0Y |
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| label |
Permanent congenital hypothyroidism |
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| notation |
ORPHA:226292 Category |
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| prefixIRI |
ORDO:Orphanet_226292 |
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| prefLabel |
Permanent congenital hypothyroidism |
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| present_in |
Europe AND has_birth_prevalence_average_value : 33.3 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown |
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| subClassOf |
http://www.orpha.net/ORDO/Orphanet_156643 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_226292 | EFO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_226292 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0016408 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0016408 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0016408 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0016408 | DOVES | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_19029 | HRDO | LOOM |