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237755009: Congenital adrenal hyperplasia - desmolase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency

\Adrenogenital disorder\Congenital adrenal hyperplasia\CAH - desmolase deficiency

\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency

\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Fetal and/or neonatal disorder\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\CAH - desmolase deficiency
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase 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\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase 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\Adrenogenital disorder\Congenital adrenal hyperplasia\CAH - desmolase 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)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase 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\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Metabolic disease\Disorder of steroid metabolism\Adrenal virilism\CAH - desmolase deficiency
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\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\CAH - desmolase deficiency
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency

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
CAH - desmolase deficiency	Is a	Adrenal virilism	true	Inferred relationship	Some
CAH - desmolase deficiency	Is a	Congenital adrenal hyperplasia	true	Inferred relationship	Some
CAH - desmolase deficiency	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
CAH - desmolase deficiency	Finding site	Adrenal cortex structure	false	Inferred relationship	Some	1
CAH - desmolase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
CAH - desmolase deficiency	Associated morphology	Hyperplasia	false	Inferred relationship	Some	1
CAH - desmolase deficiency	Finding site	Adrenal cortex structure	false	Inferred relationship	Some	1
CAH - desmolase deficiency	Associated morphology	Hyperplasia	true	Inferred relationship	Some	1
CAH - desmolase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
CAH - desmolase deficiency	Associated morphology	Hyperplasia	false	Inferred relationship	Some	2
CAH - desmolase deficiency	Finding site	Adrenal cortex structure	true	Inferred relationship	Some	1
CAH - desmolase deficiency	Associated morphology	Congenital hyperplasia	false	Inferred relationship	Some	1
CAH - desmolase deficiency	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cholesterol monooxygenase (side-chain cleaving) deficiency	Is a	True	CAH - desmolase deficiency	Inferred relationship	Some
17 alpha-Hydroxyprogesterone aldolase deficiency	Is a	True	CAH - desmolase deficiency	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356316014	CAH - desmolase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2619572018	Congenital adrenal hyperplasia (CAH)- desmolase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913724014	Congenital adrenal hyperplasia - desmolase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2913841018	Congenital adrenal hyperplasia - desmolase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5882621000241117	hyperplasie surrénalienne congénitale due à un déficit en desmolase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5882631000241115	hyperplasie congénitale des glandes surrénales due à un déficit en desmolase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module