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 (disorder)

\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 (disorder)
\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 (disorder)
\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 (disorder)
\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 (disorder)

\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Deficiency of steroid 21-monooxygenase (disorder)
\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 (disorder)
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of steroid 21-monooxygenase (disorder)
\Disease\Metabolic disease\Disorder of steroid metabolism\Deficiency of steroid 21-monooxygenase (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of steroid 21-monooxygenase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of steroid 21-monooxygenase (disorder)	Is a	Congenital adrenal hyperplasia	false	Inferred relationship	Some
Deficiency of steroid 21-monooxygenase (disorder)	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Deficiency of steroid 21-monooxygenase (disorder)	Finding site	Adrenal cortex structure	true	Inferred relationship	Some	1
Deficiency of steroid 21-monooxygenase (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Deficiency of steroid 21-monooxygenase (disorder)	Is a	Disorder of adrenal cortex (disorder)	true	Inferred relationship	Some
Deficiency of steroid 21-monooxygenase (disorder)	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 (disorder)	Inferred relationship	Some
Mild steroid 21-hydroxylase deficiency	Is a	True	Deficiency of steroid 21-monooxygenase (disorder)	Inferred relationship	Some
Moderate steroid 21-hydroxylase deficiency	Is a	True	Deficiency of steroid 21-monooxygenase (disorder)	Inferred relationship	Some
Steroid 21-monooxygenase deficiency, salt wasting type	Is a	False	Deficiency of steroid 21-monooxygenase (disorder)	Inferred relationship	Some
Steroid 21-monooxygenase deficiency, simple virilizing type	Due to	True	Deficiency of steroid 21-monooxygenase (disorder)	Inferred relationship	Some	2
Steroid 21-monooxygenase deficiency, salt wasting type	Due to	True	Deficiency of steroid 21-monooxygenase (disorder)	Inferred relationship	Some	2
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.	Due to	True	Deficiency of steroid 21-monooxygenase (disorder)	Inferred relationship	Some	2
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency non-classic form (disorder)	Due to	True	Deficiency of steroid 21-monooxygenase (disorder)	Inferred relationship	Some	2

This concept is not in any reference sets

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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
4770581000241117	déficit en steroid 21-monooxygénase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module