loading...| Preferred Name |
Congenital adrenal hyperplasia |
|
| Synonyms |
CAH |
|
| Definitions |
A group of rare inherited endocrine disorders caused by a steroidogenic enzyme deficiency and characterized by adrenal insufficiency and variable degrees of hyper- or hypoandrogenism manifestations, depending on disease type and severity. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_418 |
|
| alternative_term |
CAH |
|
| definition |
A group of rare inherited endocrine disorders caused by a steroidogenic enzyme deficiency and characterized by adrenal insufficiency and variable degrees of hyper- or hypoandrogenism manifestations, depending on disease type and severity. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418 |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
ICD-10:E25.0 OMIM:201910 OMIM:613571 ICD-11:5A71.01 OMIM:201710 MedDRA:10010323 OMIM:202010 OMIM:201810 OMIM:202110 MeSH:D000312 UMLS:C0001627 |
|
| label |
Congenital adrenal hyperplasia |
|
| notation |
Clinical group ORPHA:418 |
|
| prefixIRI |
ORDO:Orphanet_418 |
|
| prefLabel |
Congenital adrenal hyperplasia |
|
| present_in |
Czech Republic AND has_birth_prevalence_average_value : 7.98 AND has_birth_prevalence_range : 1-9 / 100 000 Belgium AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 New Zealand AND has_birth_prevalence_average_value : 6.9 AND has_birth_prevalence_range : 1-9 / 100 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 6.7 AND has_birth_prevalence_range : 1-9 / 100 000 Cuba AND has_birth_prevalence_average_value : 6.3 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 6.7 AND has_birth_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 9.3 AND has_birth_prevalence_range : 1-9 / 100 000 Netherlands AND has_birth_prevalence_average_value : 7.65 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 10.2 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 4.8 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 8.6 AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_birth_prevalence_average_value : 12.8 AND has_birth_prevalence_range : 1-5 / 10 000 India AND has_birth_prevalence_average_value : 38.8 AND has_birth_prevalence_range : 1-5 / 10 000 Japan AND has_birth_prevalence_average_value : 5.35 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 5.6 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 13.35 AND has_annual_incidence_range : 1-5 / 10 000 Italy AND has_birth_prevalence_average_value : 6.65 AND has_birth_prevalence_range : 1-9 / 100 000 China AND has_point_prevalence_average_value : 1.36 AND has_point_prevalence_range : 1-9 / 100 000 |
|
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_156643 http://www.orpha.net/ORDO/Orphanet_90692 http://www.orpha.net/ORDO/Orphanet_181412 |