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717261006: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
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
5401537017 A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401538010 A form of congenital adrenal hyperplasia (CAH) characterised by simple virilising or salt wasting forms that can manifest with abnormal genital development with variable levels of virilisation in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycaemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308873013 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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
5401537017 A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401538010 A form of congenital adrenal hyperplasia (CAH) characterised by simple virilising or salt wasting forms that can manifest with abnormal genital development with variable levels of virilisation in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycaemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3420141001000119 Nebennierenhyperplasie, kongenitale, durch 21-Hydroxylase-Mangel, klassische Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
931651000172111 HCS classique par 21-OHD fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained 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 Switzerland NRC maintained Module
931651000172111 HCS classique par 21-OHD fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained 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 Switzerland NRC maintained Module
3420141001000119 Nebennierenhyperplasie, kongenitale, durch 21-Hydroxylase-Mangel, klassische Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Due to 21-hydroxylase deficiency false Inferred relationship Existential restriction modifier (core metadata concept)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Is a Congenital adrenal hyperplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Associated morphology Congenital hyperplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Finding site Adrenal cortex structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Due to Deficiency of steroid 21-monooxygenase true Inferred relationship Existential restriction modifier (core metadata concept) 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Finding site Adrenal cortex structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Associated morphology Hyperplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Steroid 21-monooxygenase deficiency, simple virilizing type Is a True Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Steroid 21-monooxygenase deficiency, salt wasting type (disorder) Is a True Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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