15991002: ernstige deficiëntie van steroïd-21-hydroxylase (aandoening)

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\Severe steroid 21-hydroxylase deficiency

\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\Severe steroid 21-hydroxylase deficiency
\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\Severe steroid 21-hydroxylase deficiency
\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\Severe steroid 21-hydroxylase deficiency
\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\Severe steroid 21-hydroxylase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Severe steroid 21-hydroxylase deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Severe steroid 21-hydroxylase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe steroid 21-hydroxylase deficiency
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Severe steroid 21-hydroxylase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Severe steroid 21-hydroxylase deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Severe steroid 21-hydroxylase deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Deficiency of steroid 21-monooxygenase\Severe steroid 21-hydroxylase deficiency
\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\Severe steroid 21-hydroxylase deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Severe steroid 21-hydroxylase deficiency
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of steroid 21-monooxygenase\Severe steroid 21-hydroxylase deficiency
\Disease\Metabolic disease\Disorder of steroid metabolism\Deficiency of steroid 21-monooxygenase\Severe steroid 21-hydroxylase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2006. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe steroid 21-hydroxylase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Severe steroid 21-hydroxylase deficiency	Is a	Reproductive system hereditary disorder	false	Inferred relationship	Some
Severe steroid 21-hydroxylase deficiency	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Severe steroid 21-hydroxylase deficiency	Is a	Deficiency of steroid 21-monooxygenase	true	Inferred relationship	Some
Severe steroid 21-hydroxylase deficiency	Is a	Adrenal virilism	false	Inferred relationship	Some
Severe steroid 21-hydroxylase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Severe steroid 21-hydroxylase deficiency	Is a	Congenital anomaly of adrenal gland (disorder)	false	Inferred relationship	Some
Severe steroid 21-hydroxylase deficiency	Finding site	Adrenal cortex structure	false	Inferred relationship	Some
Severe steroid 21-hydroxylase deficiency	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Severe steroid 21-hydroxylase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Severe steroid 21-hydroxylase deficiency	Severity	Severe	false	Inferred relationship	Some
Severe steroid 21-hydroxylase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Severe steroid 21-hydroxylase deficiency	Finding site	Adrenal cortex structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
27072017	Severe steroid 21-hydroxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
742926010	Severe steroid 21-hydroxylase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7073351000146118	ernstige steroïd-21-hydroxylasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7073361000146115	ernstige deficiëntie van steroïd-21-hydroxylase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8714131000146113	ernstige deficiëntie van steroïd-21-hydroxylase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)