124221007: Deficiency of steroid 21-monooxygenase (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Deficiency of steroid 21-monooxygenase

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Deficiency of steroid 21-monooxygenase
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Deficiency of steroid 21-monooxygenase
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Deficiency of steroid 21-monooxygenase
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Deficiency of steroid 21-monooxygenase

\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Deficiency of steroid 21-monooxygenase
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Deficiency of steroid 21-monooxygenase
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of steroid 21-monooxygenase
\Disease\Metabolic disease\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
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
3332438012 21-hydroxylase deficiency en Synonym (core metadata concept) 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	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of steroid 21-monooxygenase	Is a	Congenital adrenal hyperplasia	false	Inferred relationship	Some
Deficiency of steroid 21-monooxygenase	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Deficiency of steroid 21-monooxygenase	Finding site	Adrenal cortex structure	true	Inferred relationship	Some	1
Deficiency of steroid 21-monooxygenase	Occurrence	Congenital	false	Inferred relationship	Some
Deficiency of steroid 21-monooxygenase	Is a	Disorder of adrenal cortex (disorder)	true	Inferred relationship	Some
Deficiency of steroid 21-monooxygenase	Is a	Disorder of steroid metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Severe steroid 21-hydroxylase deficiency	Is a	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Some
Mild steroid 21-hydroxylase deficiency	Is a	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Some
Moderate steroid 21-hydroxylase deficiency	Is a	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Some
Steroid 21-monooxygenase deficiency, salt wasting type	Is a	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
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder)	Due to	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Some	2
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency non-classic form (disorder)	Due to	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Some	2

This concept is not in any reference sets