124221007: Deficiency of steroid 21-monooxygenase (disorder)

SNOMED CT Concept\constatation clinique\...

\Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Deficiency of steroid 21-monooxygenase

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Deficiency of steroid 21-monooxygenase
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Deficiency of steroid 21-monooxygenase
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Deficiency of steroid 21-monooxygenase
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Deficiency of steroid 21-monooxygenase

\Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Deficiency of steroid 21-monooxygenase
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Deficiency of steroid 21-monooxygenase
\Disease\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Deficiency of steroid 21-monooxygenase
\Disease\trouble métabolique\Disorder of steroid metabolism\Deficiency of steroid 21-monooxygenase

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

203798012 Deficiency of steroid 21-hydroxylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203799016 Deficiency of steroid 21-monooxygenase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3332438012 21-hydroxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473063012 CAH - 21-hydroxylase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

727726019 Deficiency of steroid 21-monooxygenase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of steroid 21-monooxygenase	est un(e) (attribut)	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of steroid 21-monooxygenase	est un(e) (attribut)	hyperplasie surrénale congénitale	false	Inferred relationship	Some
Deficiency of steroid 21-monooxygenase	survenue (attribut)	congénital	false	Inferred relationship	Some
Deficiency of steroid 21-monooxygenase	est un(e) (attribut)	Disorder of adrenal cortex (disorder)	true	Inferred relationship	Some
Deficiency of steroid 21-monooxygenase	est un(e) (attribut)	Disorder of steroid metabolism	true	Inferred relationship	Some
Deficiency of steroid 21-monooxygenase	localisation d'une constatation (attribut)	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Deficiency of steroid 21-monooxygenase	localisation d'une constatation (attribut)	cortex surrénalien	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency non-classic form (disorder)	Due to	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Some	2
Severe steroid 21-hydroxylase deficiency	est un(e) (attribut)	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Some
Mild steroid 21-hydroxylase deficiency	est un(e) (attribut)	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Some
Moderate steroid 21-hydroxylase deficiency (disorder)	est un(e) (attribut)	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Some
Steroid 21-monooxygenase deficiency, salt wasting type	est un(e) (attribut)	False	Deficiency of steroid 21-monooxygenase	Inferred relationship	Some
Steroid 21-monooxygenase deficiency, simple virilising type	Due to	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Some	2
Steroid 21-monooxygenase deficiency, salt wasting type	Due to	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Some	2
hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique	Due to	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Some	2

This concept is not in any reference sets