703536004: Megalencephalic leukoencephalopathy with subcortical cysts (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephalic leucoencephalopathy with subcortical cysts
\Head finding (finding)\Finding of brain\Disorder of brain\Leukoencephalopathy\Megalencephalic leucoencephalopathy with subcortical cysts
\Head finding (finding)\Finding of head region\Leukoencephalopathy\Megalencephalic leucoencephalopathy with subcortical cysts
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephalic leucoencephalopathy with subcortical cysts
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephalic leucoencephalopathy with subcortical cysts
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Leukoencephalopathy\Megalencephalic leucoencephalopathy with subcortical cysts

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephalic leucoencephalopathy with subcortical cysts
\Central nervous system finding\Finding of brain\Disorder of brain\Leukoencephalopathy\Megalencephalic leucoencephalopathy with subcortical cysts
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephalic leucoencephalopathy with subcortical cysts
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephalic leucoencephalopathy with subcortical cysts
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Leukoencephalopathy\Megalencephalic leucoencephalopathy with subcortical cysts

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Megalencephalic leucoencephalopathy with subcortical cysts
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Megalencephalic leucoencephalopathy with subcortical cysts
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Megalencephalic leucoencephalopathy with subcortical cysts
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephalic leucoencephalopathy with subcortical cysts
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephalic leucoencephalopathy with subcortical cysts
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Megalencephalic leucoencephalopathy with subcortical cysts
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Megalencephalic leucoencephalopathy with subcortical cysts
\Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephalic leucoencephalopathy with subcortical cysts
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephalic leucoencephalopathy with subcortical cysts
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephalic leucoencephalopathy with subcortical cysts
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Leukoencephalopathy\Megalencephalic leucoencephalopathy with subcortical cysts
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephalic leucoencephalopathy with subcortical cysts
\Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephalic leucoencephalopathy with subcortical cysts
\Disease\Disorder of head (disorder)\Disorder of brain\Leukoencephalopathy\Megalencephalic leucoencephalopathy with subcortical cysts
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Megalencephalic leucoencephalopathy with subcortical cysts
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephalic leucoencephalopathy with subcortical cysts
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephalic leucoencephalopathy with subcortical cysts

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Megalencephalic leucoencephalopathy with subcortical cysts	Is a	Macroencephaly (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Megalencephalic leucoencephalopathy with subcortical cysts	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Megalencephalic leucoencephalopathy with subcortical cysts	Is a	Leukoencephalopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Megalencephalic leucoencephalopathy with subcortical cysts	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Megalencephalic leucoencephalopathy with subcortical cysts	Finding site	Cerebral white matter structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Megalencephalic leucoencephalopathy with subcortical cysts	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Megalencephalic leucoencephalopathy with subcortical cysts	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Megalencephalic leucoencephalopathy with subcortical cysts	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Megalencephalic leucoencephalopathy with subcortical cysts	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Megalencephalic leucoencephalopathy with subcortical cysts	Finding site	Entire brain	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Megalencephalic leucoencephalopathy with subcortical cysts	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megalencephalic leucoencephalopathy with subcortical cysts	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megalencephalic leucoencephalopathy with subcortical cysts	Finding site	Entire brain	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megalencephalic leucoencephalopathy with subcortical cysts	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megalencephalic leucoencephalopathy with subcortical cysts	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megalencephalic leucoencephalopathy with subcortical cysts	Finding site	The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica.	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megalencephalic leucoencephalopathy with subcortical cysts	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3009015016	Infantile leukoencephalopathy and megalencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009036019	Megalencephalic leukoencephalopathy with subcortical cysts	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009142018	Vacuolating leukoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009187019	Leukoencephalopathy with swelling and cysts	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009208017	Vacuolating megalencephalic leukoencephalopathy with subcortical cysts	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009253015	Megalencephalic leukoencephalopathy with subcortical cysts (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009374016	Van der Knapp disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3789591012	Vacuolating megalencephalic leucoencephalopathy with subcortical cysts	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3789592017	Vacuolating leucoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3789593010	Infantile leucoencephalopathy and megalencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3789594016	Megalencephalic leucoencephalopathy with subcortical cysts	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3789595015	Leucoencephalopathy with swelling and cysts	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009015016	Infantile leukoencephalopathy and megalencephaly	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3009015016	Infantile leukoencephalopathy and megalencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009036019	Megalencephalic leukoencephalopathy with subcortical cysts	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3009036019	Megalencephalic leukoencephalopathy with subcortical cysts	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009142018	Vacuolating leukoencephalopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3009142018	Vacuolating leukoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009187019	Leukoencephalopathy with swelling and cysts	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3009187019	Leukoencephalopathy with swelling and cysts	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009208017	Vacuolating megalencephalic leukoencephalopathy with subcortical cysts	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3009208017	Vacuolating megalencephalic leukoencephalopathy with subcortical cysts	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009253015	Megalencephalic leukoencephalopathy with subcortical cysts (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3009253015	Megalencephalic leukoencephalopathy with subcortical cysts (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009374016	Van der Knapp disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3789591012	Vacuolating megalencephalic leucoencephalopathy with subcortical cysts	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3789592017	Vacuolating leucoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3789593010	Infantile leucoencephalopathy and megalencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3789594016	Megalencephalic leucoencephalopathy with subcortical cysts	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3789595015	Leucoencephalopathy with swelling and cysts	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3426921001000112	Megalenzephale Leukoenzephalopathie mit subkortikalen Zysten	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
870511000172113	leucodystrophie mégalencéphalique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
871791000172115	leucoencéphalopathie mégalencéphalique avec kystes sous-corticaux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
870511000172113	leucodystrophie mégalencéphalique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
871791000172115	leucoencéphalopathie mégalencéphalique avec kystes sous-corticaux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3426921001000112	Megalenzephale Leukoenzephalopathie mit subkortikalen Zysten	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module