65389002: adrenoleukodystrofie (aandoening)

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

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

\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy

\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy

\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\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy
\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)\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy
\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)\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy
\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\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy
\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)\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy
\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\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy
\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)\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy

\Neurological lesion\Leucodystrophy\Adrenoleukodystrophy

\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\...

\Leucodystrophy\Adrenoleukodystrophy

\Hereditary degenerative disease of central nervous system\Adrenoleukodystrophy

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Adrenoleukodystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Adrenoleukodystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Adrenoleukodystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Adrenoleukodystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Adrenoleukodystrophy
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Adrenoleukodystrophy
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Adrenoleukodystrophy
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Adrenoleukodystrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Adrenoleukodystrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Adrenoleukodystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Adrenoleukodystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Adrenoleukodystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Adrenoleukodystrophy
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Adrenoleukodystrophy
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Adrenoleukodystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Adrenoleukodystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Adrenoleukodystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Adrenoleukodystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Adrenoleukodystrophy
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy
\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)\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Adrenoleukodystrophy
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Adrenoleukodystrophy

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
Adrenoleukodystrophy	Is a	Loss of single peroxisomal function	true	Inferred relationship	Some
Adrenoleukodystrophy	Is a	Adrenal cortical hypofunction	false	Inferred relationship	Some
Adrenoleukodystrophy	Is a	Congenital anomaly of adrenal gland (disorder)	false	Inferred relationship	Some
Adrenoleukodystrophy	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Adrenoleukodystrophy	Is a	Reproductive system hereditary disorder	false	Inferred relationship	Some
Adrenoleukodystrophy	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Adrenoleukodystrophy	Finding site	Adrenal cortex structure	false	Inferred relationship	Some
Adrenoleukodystrophy	Occurrence	Congenital	false	Inferred relationship	Some
Adrenoleukodystrophy	Is a	Adrenal cortical hypofunction (disorder)	true	Inferred relationship	Some
Adrenoleukodystrophy	Occurrence	Congenital	false	Inferred relationship	Some	1
Adrenoleukodystrophy	Finding site	Adrenal cortex structure	false	Inferred relationship	Some	1
Adrenoleukodystrophy	Is a	X-linked dominant hereditary disease (disorder)	false	Inferred relationship	Some
Adrenoleukodystrophy	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Adrenoleukodystrophy	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Adrenoleukodystrophy	Is a	Leucodystrophy	true	Inferred relationship	Some
Adrenoleukodystrophy	Occurrence	Congenital	true	Inferred relationship	Some	4
Adrenoleukodystrophy	Finding site	Adrenal cortex structure	true	Inferred relationship	Some	3
Adrenoleukodystrophy	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	1
Adrenoleukodystrophy	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
Adrenoleukodystrophy	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
Adrenoleukodystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Adrenoleukodystrophy	Is a	X-linked hereditary disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neonatal adrenoleukodystrophy	Is a	True	Adrenoleukodystrophy	Inferred relationship	Some
Acyl-CoA oxidase deficiency	Is a	False	Adrenoleukodystrophy	Inferred relationship	Some
Adolescent X-linked adrenoleukodystrophy (disorder)	Is a	True	Adrenoleukodystrophy	Inferred relationship	Some
Childhood cerebral X-linked adrenoleukodystrophy	Is a	True	Adrenoleukodystrophy	Inferred relationship	Some
Adrenomyeloneuropathy (disorder)	Is a	True	Adrenoleukodystrophy	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
108634018	Adrenoleukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
108635017	Adrenomyeloneuropathy	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
108636016	ALD	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
108637013	Bronze Schilder disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
108638015	Schilder-Addison complex	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
108639011	Siemerling-Creutzfeldt disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
108640013	Siemerling-Creutzfeld disease	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
804886014	Adrenoleukodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1232670018	X-linked adrenoleucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2154288010	Adrenoleucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2957107010	ALD - adrenoleukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4637154010	X-linked adrenoleukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
354801000146110	adrenoleukodystrofie [ALD]	nl	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
354811000146112	adrenoleukodystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
354821000146119	adrenoleukodystrofie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5335461000146111	ALD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6998421000146114	X-ALD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7682561000146118	X-gebonden adrenoleukodystrofie (X-ALD) is een erfelijke, geslachtsgebonden stofwisselingsziekte. Dit leidt tot schade aan het zenuwstelsel waardoor onder meer ernstige verlammingsverschijnselen kunnen ontstaan, en leidt in een aantal gevallen tot schade aan de bijnieren.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)