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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 (disorder)\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\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 (disorder)\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 (disorder)\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 (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\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 (disorder)\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 (disorder)\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 (disorder)\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Metabolic disease\Disorder of steroid metabolism\Adrenal virilism\CAH - desmolase deficiency
\Disease\Congenital disease (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 (disorder)\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\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\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\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 (disorder)\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\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	kongenital hyperplasi	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
1005651000052116	kongenital adrenal hyperplasi, desmolasbrist	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)