124220008: Deficiency of steroid 17-alpha-monooxygenase (disorder)

SNOMED CT Concept\constatation clinique\...

\Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\...

\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase

\Adrenogenital disorder\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase

\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase

\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-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)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-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)\Adrenogenital disorder\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-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)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-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)\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-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)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-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)\Adrenogenital disorder\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-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)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-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)\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-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)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-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)\Adrenogenital disorder\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-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)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-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)\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-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)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-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)\Adrenogenital disorder\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-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)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-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)\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Adrenogenital disorder\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\affection d'un système corporel\pathologie endocrinologique\anomalie congénitale d'une glande endocrine\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-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)\Adrenocortical hyperplasia\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'une glande endocrine\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\trouble du développement\Developmental hereditary disorder\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-monooxygenase
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'une glande endocrine\Congenital anomaly of adrenal gland\hyperplasie surrénale congénitale\Deficiency of steroid 17-alpha-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

203795010 Deficiency of steroid 17-alpha-hydroxylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203796011 Deficiency of steroid 17-alpha-monooxygenase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473057015 Congenital adrenal hyperplasia, type 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473058013 Adrenogenital disorder due to 17-alpha-hydroxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473059017 Steroid 17-alpha-monooxygenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473060010 CAH - 17-alpha-hydroxysteroid dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

473061014 CAH - 17-hydroxylase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

473062019 17 alpha-Hydroxylase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

727724016 Deficiency of steroid 17-alpha-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 17-alpha-monooxygenase	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Deficiency of steroid 17-alpha-monooxygenase	est un(e) (attribut)	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of steroid 17-alpha-monooxygenase	est un(e) (attribut)	hyperplasie surrénale congénitale	true	Inferred relationship	Some
Deficiency of steroid 17-alpha-monooxygenase	survenue (attribut)	congénital	false	Inferred relationship	Some
Deficiency of steroid 17-alpha-monooxygenase	morphologie associée (attribut)	Hyperplasia (morphologic abnormality)	false	Inferred relationship	Some	1
Deficiency of steroid 17-alpha-monooxygenase	localisation d'une constatation (attribut)	cortex surrénalien	false	Inferred relationship	Some	1
Deficiency of steroid 17-alpha-monooxygenase	morphologie associée (attribut)	Hyperplasia (morphologic abnormality)	true	Inferred relationship	Some	1
Deficiency of steroid 17-alpha-monooxygenase	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Deficiency of steroid 17-alpha-monooxygenase	morphologie associée (attribut)	Hyperplasia (morphologic abnormality)	false	Inferred relationship	Some	2
Deficiency of steroid 17-alpha-monooxygenase	localisation d'une constatation (attribut)	cortex surrénalien	true	Inferred relationship	Some	1
Deficiency of steroid 17-alpha-monooxygenase	morphologie associée (attribut)	Congenital hyperplasia (morphologic abnormality)	false	Inferred relationship	Some	1
Deficiency of steroid 17-alpha-monooxygenase	localisation d'une constatation (attribut)	cortex surrénalien	false	Inferred relationship	Some	1
Deficiency of steroid 17-alpha-monooxygenase	localisation d'une constatation (attribut)	Entire endocrine gonad (body structure)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)