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)\Disease of adrenal cortex\Deficiency of steroid 21-monooxygenase

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

\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Deficiency of steroid 21-monooxygenase
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\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:

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	Existential restriction modifier (core metadata concept)
Deficiency of steroid 21-monooxygenase	Is a	Congenital adrenal hyperplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of steroid 21-monooxygenase	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of steroid 21-monooxygenase	Finding site	Adrenal cortex structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Deficiency of steroid 21-monooxygenase	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of steroid 21-monooxygenase	Is a	Disease of adrenal cortex	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of steroid 21-monooxygenase	Is a	Disorder of steroid metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Severe steroid 21-hydroxylase deficiency	Is a	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Existential restriction modifier (core metadata concept)
Mild steroid 21-hydroxylase deficiency	Is a	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Existential restriction modifier (core metadata concept)
Moderate steroid 21-hydroxylase deficiency	Is a	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Existential restriction modifier (core metadata concept)
Steroid 21-monooxygenase deficiency, salt wasting type (disorder)	Is a	False	Deficiency of steroid 21-monooxygenase	Inferred relationship	Existential restriction modifier (core metadata concept)
Steroid 21-monooxygenase deficiency, simple virilizing type	Due to	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Steroid 21-monooxygenase deficiency, salt wasting type (disorder)	Due to	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder)	Due to	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency non-classic form	Due to	True	Deficiency of steroid 21-monooxygenase	Inferred relationship	Existential restriction modifier (core metadata concept)	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
203798012	Deficiency of steroid 21-hydroxylase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character case insensitive (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	Only initial character 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
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