237755009: Congenital adrenal hyperplasia - desmolase deficiency (disorder)

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

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

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

\Adrenogenital disorder (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)

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

\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)

\Finding of trunk structure\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\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland (disorder)\Adrenogenital disorder (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\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\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Finding of trunk structure\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\Congenital adrenal hyperplasia - desmolase deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\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\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\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\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\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\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Adrenogenital disorder (disorder)\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\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\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Metabolic disease\Disorder of steroid metabolism\Adrenal virilism\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Developmental disorder (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\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital adrenal hyperplasia\Congenital adrenal hyperplasia - desmolase deficiency (disorder)

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

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

356316014 CAH - desmolase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

626528014 CAH - desmolase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

626528014 CAH - desmolase deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2609128018 Congenital adrenal hyperplasia (CAH)- desmolase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (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 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 Only initial character 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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital adrenal hyperplasia - desmolase deficiency (disorder)	Is a	Adrenal virilism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital adrenal hyperplasia - desmolase deficiency (disorder)	Is a	Congenital adrenal hyperplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital adrenal hyperplasia - desmolase deficiency (disorder)	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital adrenal hyperplasia - desmolase deficiency (disorder)	Finding site	Adrenal cortex structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital adrenal hyperplasia - desmolase deficiency (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital adrenal hyperplasia - desmolase deficiency (disorder)	Associated morphology	Hyperplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital adrenal hyperplasia - desmolase deficiency (disorder)	Finding site	Adrenal cortex structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital adrenal hyperplasia - desmolase deficiency (disorder)	Associated morphology	Hyperplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital adrenal hyperplasia - desmolase deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital adrenal hyperplasia - desmolase deficiency (disorder)	Associated morphology	Hyperplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital adrenal hyperplasia - desmolase deficiency (disorder)	Finding site	Adrenal cortex structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital adrenal hyperplasia - desmolase deficiency (disorder)	Associated morphology	Congenital hyperplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital adrenal hyperplasia - desmolase deficiency (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cholesterol monooxygenase (side-chain cleaving) deficiency	Is a	True	Congenital adrenal hyperplasia - desmolase deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
17 alpha-Hydroxyprogesterone aldolase deficiency	Is a	True	Congenital adrenal hyperplasia - desmolase deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets