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

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Disorder of adrenal gland\...

\Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase

\Adrenogenital disorder\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase

\Disorder of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase

\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of adrenal gland\Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of adrenal gland\Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of adrenal gland\Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of adrenal gland\Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\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\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Deficiency of steroid 17-alpha-monooxygenase

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

Descriptions:

Id Description Lang Type Status Case? Module

203795010 Deficiency of steroid 17-alpha-hydroxylase en Synonym Active Entire term case insensitive SNOMED CT core module
203796011 Deficiency of steroid 17-alpha-monooxygenase en Synonym Active Entire term case insensitive SNOMED CT core module
473057015 Congenital adrenal hyperplasia, type 5 en Synonym Active Entire term case insensitive SNOMED CT core module
473058013 Adrenogenital disorder due to 17-alpha-hydroxylase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
473059017 Steroid 17-alpha-monooxygenase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
473060010 CAH - 17-alpha-hydroxysteroid dehydrogenase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
473061014 CAH - 17-hydroxylase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
473062019 17 alpha-Hydroxylase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
727724016 Deficiency of steroid 17-alpha-monooxygenase (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of steroid 17-alpha-monooxygenase	Is a	Specific enzyme deficiency	true	Inferred relationship	Existential restriction modifier
Deficiency of steroid 17-alpha-monooxygenase	Is a	Congenital adrenal hyperplasia	true	Inferred relationship	Existential restriction modifier
Deficiency of steroid 17-alpha-monooxygenase	Finding site	Adrenal cortex structure	false	Inferred relationship	Existential restriction modifier	1
Deficiency of steroid 17-alpha-monooxygenase	Finding site	Entire endocrine gonad	false	Inferred relationship	Existential restriction modifier
Deficiency of steroid 17-alpha-monooxygenase	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Deficiency of steroid 17-alpha-monooxygenase	Associated morphology	Hyperplasia	false	Inferred relationship	Existential restriction modifier	1
Deficiency of steroid 17-alpha-monooxygenase	Finding site	Adrenal cortex structure	false	Inferred relationship	Existential restriction modifier	1
Deficiency of steroid 17-alpha-monooxygenase	Associated morphology	Hyperplasia	true	Inferred relationship	Existential restriction modifier	1
Deficiency of steroid 17-alpha-monooxygenase	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Deficiency of steroid 17-alpha-monooxygenase	Associated morphology	Hyperplasia	false	Inferred relationship	Existential restriction modifier	2
Deficiency of steroid 17-alpha-monooxygenase	Finding site	Adrenal cortex structure	true	Inferred relationship	Existential restriction modifier	1
Deficiency of steroid 17-alpha-monooxygenase	Associated morphology	Congenital hyperplasia	false	Inferred relationship	Existential restriction modifier	1
Deficiency of steroid 17-alpha-monooxygenase	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets