12721000146107: deficiëntie van 3'-fosfoadenosine 5'-fosfosulfaatsynthase 2 (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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)

\Adrenogenital disorder\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)

\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)

\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (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 (disorder)\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (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 (disorder)\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (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 (disorder)\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenal hyperplasia (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Adrenogenital disorder\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenocortical hyperplasia\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (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 (disorder)\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\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\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\Congenital adrenal hyperplasia\Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 07-Mar 2016. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

46451000146115 Deficiency of PAPSS2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

78921000146116 Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

121301000146114 Deficiency of phosphoadenosine-phosphosulfate reductase 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

46461000146117 PAPSS2-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10072331000146113 deficiëntie van 3'-fosfoadenosine 5'-fosfosulfaatsynthase 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10072341000146117 deficiëntie van 3'-fosfoadenosine 5'-fosfosulfaatsynthase 2 (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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)	Finding site	Adrenal cortex structure	true	Inferred relationship	Some	1
Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)	Associated morphology	congenitale hyperplasie	false	Inferred relationship	Some	1
Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)	Is a	Congenital adrenal hyperplasia	true	Inferred relationship	Some
Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some
Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)	Associated morphology	Hyperplasia	true	Inferred relationship	Some	1
Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set