About: congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

medical condition

Attributes	Values
rdf:type	Item
description	medical condition (en) медичний стан (uk) Form der Kongenitalen Nebennierenhyperplasie (de) 一种罕见的常染色体隐性遗传病 (zh)
health specialty	wds:Q4127185-143A39F2-D439-47DC-BB82-761FF822F284
ICD-10	wds:q4127185-2F93F2BF-7B12-4570-B2D4-F908E656547D
Mondo ID	wds:Q4127185-C35DAA97-04B2-47F6-A45A-A4731DAF82CA
DiseasesDB	wds:q4127185-79CDC0DA-EE38-488A-A10F-868BF18E45BD
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008728
health specialty	endocrinology
ICD-10	E25.0
Mondo ID	MONDO_0008728
DiseasesDB	1854
rdfs:label	congenital adrenal hyperplasia due to 21-hydroxylase deficiency (en) hyperplasie congénitale des surrénales par déficit en 21-hydroxylase (fr) 21-水酸化酵素欠損先天性副腎過形成 (ja) Klassische 21-OHD CAH (de) Nedostatak 21-hidroksilaze (bs) فرط تنسج الكظرية الخلقي بسبب نقص إنزيم 21 - هيدروكسيليز (ar) Врождённая гиперплазия коры надпочечников вследствие недостаточности 21-гидроксилазы (ru) 类固醇21-羟化酶缺乏症 (zh) 类固醇21-羟化酶缺乏症 (zh-hans) 類固醇21-羥化酶缺乏症 (zh-hant)
skos:prefLabel	congenital adrenal hyperplasia due to 21-hydroxylase deficiency (en) hyperplasie congénitale des surrénales par déficit en 21-hydroxylase (fr) 21-水酸化酵素欠損先天性副腎過形成 (ja) Klassische 21-OHD CAH (de) Nedostatak 21-hidroksilaze (bs) فرط تنسج الكظرية الخلقي بسبب نقص إنزيم 21 - هيدروكسيليز (ar) Врождённая гиперплазия коры надпочечников вследствие недостаточности 21-гидроксилазы (ru) 类固醇21-羟化酶缺乏症 (zh) 类固醇21-羟化酶缺乏症 (zh-hans) 類固醇21-羥化酶缺乏症 (zh-hant)
name	congenital adrenal hyperplasia due to 21-hydroxylase deficiency (en) hyperplasie congénitale des surrénales par déficit en 21-hydroxylase (fr) 21-水酸化酵素欠損先天性副腎過形成 (ja) Klassische 21-OHD CAH (de) Nedostatak 21-hidroksilaze (bs) فرط تنسج الكظرية الخلقي بسبب نقص إنزيم 21 - هيدروكسيليز (ar) Врождённая гиперплазия коры надпочечников вследствие недостаточности 21-гидроксилазы (ru) 类固醇21-羟化酶缺乏症 (zh) 类固醇21-羟化酶缺乏症 (zh-hans) 類固醇21-羥化酶缺乏症 (zh-hant)
instance of	wds:Q4127185-3EDE7239-3D99-4BF2-A669-50040D84EF07
instance of	class of disease
subclass of	wds:Q4127185-607786de-48c5-e505-d7b1-0ff9f677166f wds:Q4127185-8668527a-4c6c-0283-c195-69aa15739db9
subclass of	congenital adrenal hyperplasia adrenal enzyme deficiency
UniProt disease ID	wds:Q4127185-3eae7f9e-45cd-2c46-124f-5735a9854342
Orphanet ID	wds:Q4127185-e410c5eb-4bd2-9f24-810b-9393bdb44504
GARD rare disease ID	wds:Q4127185-5ec1789e-4041-4e44-0f06-c179bf958678 wds:Q4127185-6C87BC47-3305-446A-A898-AD66B9CB58D8
OMIM ID	wds:q4127185-8660E863-B3E0-412C-B89B-5D7F6158F9C4
UniProt disease ID	DI-00043
Orphanet ID	90794
GARD rare disease ID	5757 12665
OMIM ID	201910
ICD-9 ID	wds:q4127185-E0A2481B-B183-4E26-8D16-3FF0742CC706
ICD-9 ID	255.2
skos:altLabel	AH3 (en) 21-hydroxylase deficieny (en) CYP21 deficiency (en) Врождённая гиперплазия надпочечников вследствие недостаточности 21-гидроксилазы (ru) adrenal gland hyperplasia 3 (en) adrenal gland hyperplasia III (en) 先天性副腎過形成 21水酸化酵素欠損症 (ja) فرط تنسج الكظرية الخلقي بسبب نقص إنزيم ٢١ - هيدروكسيليز (ar) 21水酸化酵素欠損による先天性副腎過形成 (ja)
NCI Thesaurus ID	wds:Q4127185-119cb5d3-491a-a162-cd9c-68627173f036
UMLS CUI	wds:Q4127185-DC06BE08-BD43-49E3-A2C4-CCDDF935E71C
Microsoft Academic ID	wds:Q4127185-E24054D2-0DE5-4CEB-B7A4-4DC6B1272A9F
Microsoft Academic ID	https://makg.org/entity/2777029063
NCI Thesaurus ID	C129302
UMLS CUI	C4273964
Microsoft Academic ID	2777029063
WikiProjectMed ID	wds:Q4127185-4573F041-3A67-421E-824A-36276D22838D
WikiProjectMed ID	Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
is owl:sameAs of	congenital adrenal hyperplasia due to 21-hydroxylase deficiency
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q4127185 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency https://de.wikipedia.org/wiki/Klassische_21-OHD_CAH https://zh.wikipedia.org/wiki/21-%E7%BE%9F%E5%8C%96%E9%85%B6%E7%BC%BA%E4%B9%8F%E7%97%87 https://ru.wikipedia.org/wiki/%D0%92%D1%80%D0%BE%D0%B6%D0%B4%D1%91%D0%BD%D0%BD%D0%B0%D1%8F_%D0%B3%D0%B8%D0%BF%D0%B5%D1%80%D0%BF%D0%BB%D0%B0%D0%B7%D0%B8%D1%8F_%D0%BA%D0%BE%D1%80%D1%8B_%D0%BD%D0%B0%D0%B4%D0%BF%D0%BE%D1%87%D0%B5%D1%87%D0%BD%D0%B8%D0%BA%D0%BE%D0%B2_%D0%B2%D1%81%D0%BB%D0%B5%D0%B4%D1%81%D1%82%D0%B2%D0%B8%D0%B5_%D0%BD%D0%B5%D0%B4%D0%BE%D1%81%D1%82%D0%B0%D1%82%D0%BE%D1%87%D0%BD%D0%BE%D1%81%D1%82%D0%B8_21-%D0%B3%D0%B8%D0%B4%D1%80%D0%BE%D0%BA%D1%81%D0%B8%D0%BB%D0%B0%D0%B7%D1%8B https://ar.wikipedia.org/wiki/%D9%81%D8%B1%D8%B7_%D8%AA%D9%86%D8%B3%D8%AC_%D8%A7%D9%84%D9%83%D8%B8%D8%B1%D9%8A%D8%A9_%D8%A7%D9%84%D8%AE%D9%84%D9%82%D9%8A_%D8%A8%D8%B3%D8%A8%D8%A8_%D9%86%D9%82%D8%B5_%D8%A5%D9%86%D8%B2%D9%8A%D9%85_21_-_%D9%87%D9%8A%D8%AF%D8%B1%D9%88%D9%83%D8%B3%D9%8A%D9%84%D9%8A%D8%B2 https://bs.wikipedia.org/wiki/Nedostatak_21-hidroksilaze
is subclass of of	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form salt-wasting 21-hydroxylase deficiency
is subclass of of	wds:Q51797077-6a422d14-4dd1-09e1-84c3-7c0f8378ecd9 wds:Q51797016-8265ce31-431e-d800-c7da-ebe49547fff3
is main subject of	Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Pituitary-ovarian responses to leuprolide acetate testing in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population Genotyping of congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as male infertility: case report and literature review Cognitive outcome of offspring from dexamethasone-treated pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A paradigm for prenatal diagnosis and treatment

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