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237755009: Congenital adrenal hyperplasia - desmolase deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency

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

\Disorder of adrenal cortex\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\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\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenal hyperplasia\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\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 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 of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Adrenal hyperplasia\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\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\CAH - desmolase deficiency
\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\CAH - desmolase deficiency
\Disease\Metabolic disease\Disorder of steroid metabolism\Adrenal virilism\CAH - desmolase deficiency
\Disease\Congenital disease\Congenital anomaly\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\CAH - desmolase deficiency
\Disease\Congenital disease\Congenital anomaly\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\Congenital disease\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital adrenal hyperplasia\CAH - desmolase deficiency
\Disease\Developmental disorder\Congenital anomaly\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\CAH - desmolase deficiency
\Disease\Developmental disorder\Congenital anomaly\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 anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\CAH - desmolase deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2619572018 Congenital adrenal hyperplasia (CAH)- desmolase deficiency en Synonym Active Initial character case insensitive SNOMED CT core

2913724014 Congenital adrenal hyperplasia - desmolase deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

2913841018 Congenital adrenal hyperplasia - desmolase deficiency en Synonym Active Case insensitive SNOMED CT core

356316014 CAH - desmolase deficiency en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
CAH - desmolase deficiency	Pathological process	Pathological developmental process	true	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	Finding site	Entire endocrine gonad	false	Inferred relationship	Some
CAH - desmolase deficiency	Finding site	Adrenal cortex structure	false	Inferred relationship	Some	1
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	Associated morphology	Congenital hyperplasia	false	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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2619572018	Congenital adrenal hyperplasia (CAH)- desmolase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2913724014	Congenital adrenal hyperplasia - desmolase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
2913841018	Congenital adrenal hyperplasia - desmolase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
356316014	CAH - desmolase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core