54470008: 3-bètadehydrogenasedeficiëntie (aandoening)

• 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\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Adrenogenital disorder\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \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 (disorder)\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\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\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\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\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\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\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \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 (disorder)\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\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\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\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\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\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\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\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\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Finding of trunk structure\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\3 beta-Hydroxysteroid dehydrogenase deficiency
• \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 (disorder)\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Disorder of foetus and/or newborn\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\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Disorder of foetus and/or newborn\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\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase 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\3 beta-Hydroxysteroid dehydrogenase 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\3 beta-Hydroxysteroid dehydrogenase 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\3 beta-Hydroxysteroid dehydrogenase 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\3 beta-Hydroxysteroid dehydrogenase 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\3 beta-Hydroxysteroid dehydrogenase 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\3 beta-Hydroxysteroid dehydrogenase 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\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Metabolic disease\Enzymopathy\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Metabolic disease\Disorder of steroid metabolism\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase 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\3 beta-Hydroxysteroid dehydrogenase 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\3 beta-Hydroxysteroid dehydrogenase deficiency
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\3 beta-Hydroxysteroid dehydrogenase deficiency

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
90542011	3 beta-Hydroxysteroid dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
90543018	3 beta-HSD deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
90544012	Congenital adrenal hyperplasia, type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
496953016	CAH - 3 beta-dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
792704018	3 beta-Hydroxysteroid dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
13296781000146110	3-bètadehydrogenasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13296791000146112	3-bètadehydrogenasedeficiëntie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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