717261006: hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique (trouble)

\Adrenogenital disorder\hyperplasie surrénale congénitale\hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique

\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique

Descriptions:

Id Description Lang Type Status Case? Module

1017651000172118 hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3308873013 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3308874019 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

750901000241110 hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

931651000172111 HCS classique par 21-OHD fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3308875018 The most common form of congenital adrenal hyperplasia, divided into 2 clinical groups simple virilizing or salt wasting forms. Manifests with genital ambiguity in females and with adrenal insufficiency in both sexes. Girls present with ambiguous genitalia and the extent of virilization can vary from a nearly male appearance to minimal clitoromegaly. A normal uterus and various degrees of abnormal vaginal development are seen. The external genitalia in boys are normal. The disease is caused by a mutation in the CYP21A2 gene located on chromosome 6p21.3. Follows an autosomal recessive pattern of inheritance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3308876017 The most common form of congenital adrenal hyperplasia, divided into 2 clinical groups simple virilising or salt wasting forms. Manifests with genital ambiguity in females and with adrenal insufficiency in both sexes. Girls present with ambiguous genitalia and the extent of virilisation can vary from a nearly male appearance to minimal clitoromegaly. A normal uterus and various degrees of abnormal vaginal development are seen. The external genitalia in boys are normal. The disease is caused by a mutation in the CYP21A2 gene located on chromosome 6p21.3. Follows an autosomal recessive pattern of inheritance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique	localisation d'une constatation (attribut)	cortex surrénalien	true	Inferred relationship	Some	1
hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique	survenue (attribut)	congénital	true	Inferred relationship	Some	1
hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique	morphologie associée (attribut)	Hyperplasia (morphologic abnormality)	true	Inferred relationship	Some	1
hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique	Due to	21-hydroxylase deficiency (disorder)	false	Inferred relationship	Some
hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique	est un(e) (attribut)	hyperplasie surrénale congénitale	true	Inferred relationship	Some
hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique	morphologie associée (attribut)	Congenital hyperplasia (morphologic abnormality)	false	Inferred relationship	Some	2
hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique	survenue (attribut)	congénital	false	Inferred relationship	Some	2
hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique	localisation d'une constatation (attribut)	cortex surrénalien	false	Inferred relationship	Some	2
hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique	Due to	Deficiency of steroid 21-monooxygenase	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Steroid 21-monooxygenase deficiency, simple virilising type	est un(e) (attribut)	True	hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique	Inferred relationship	Some
Steroid 21-monooxygenase deficiency, salt wasting type	est un(e) (attribut)	True	hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique	Inferred relationship	Some

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
1017651000172118	hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3308873013	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308874019	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
750901000241110	hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
931651000172111	HCS classique par 21-OHD	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3308875018	The most common form of congenital adrenal hyperplasia, divided into 2 clinical groups simple virilizing or salt wasting forms. Manifests with genital ambiguity in females and with adrenal insufficiency in both sexes. Girls present with ambiguous genitalia and the extent of virilization can vary from a nearly male appearance to minimal clitoromegaly. A normal uterus and various degrees of abnormal vaginal development are seen. The external genitalia in boys are normal. The disease is caused by a mutation in the CYP21A2 gene located on chromosome 6p21.3. Follows an autosomal recessive pattern of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308876017	The most common form of congenital adrenal hyperplasia, divided into 2 clinical groups simple virilising or salt wasting forms. Manifests with genital ambiguity in females and with adrenal insufficiency in both sexes. Girls present with ambiguous genitalia and the extent of virilisation can vary from a nearly male appearance to minimal clitoromegaly. A normal uterus and various degrees of abnormal vaginal development are seen. The external genitalia in boys are normal. The disease is caused by a mutation in the CYP21A2 gene located on chromosome 6p21.3. Follows an autosomal recessive pattern of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core