703536004: Megalencephalic leukoencephalopathy with subcortical cysts (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head and neck region\Head finding\...

\Finding of brain\Disorder of brain\...

\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephalic leukoencephalopathy with subcortical cysts

\Leukoencephalopathy\Megalencephalic leukoencephalopathy with subcortical cysts

\Finding of head region\Leukoencephalopathy\Megalencephalic leukoencephalopathy with subcortical cysts

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephalic leukoencephalopathy with subcortical cysts
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephalic leukoencephalopathy with subcortical cysts
\Disorder of head\Disorder of brain\Leukoencephalopathy\Megalencephalic leukoencephalopathy with subcortical cysts

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Megalencephalic leukoencephalopathy with subcortical cysts
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Megalencephalic leukoencephalopathy with subcortical cysts
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Megalencephalic leukoencephalopathy with subcortical cysts
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Megalencephalic leukoencephalopathy with subcortical cysts
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Megalencephalic leukoencephalopathy with subcortical cysts
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephalic leukoencephalopathy with subcortical cysts
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephalic leukoencephalopathy with subcortical cysts
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephalic leukoencephalopathy with subcortical cysts
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Leukoencephalopathy\Megalencephalic leukoencephalopathy with subcortical cysts
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephalic leukoencephalopathy with subcortical cysts
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephalic leukoencephalopathy with subcortical cysts
\Disease\Disorder of head\Disorder of brain\Leukoencephalopathy\Megalencephalic leukoencephalopathy with subcortical cysts
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephalic leukoencephalopathy with subcortical cysts
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephalic leukoencephalopathy with subcortical cysts
\Disease\Developmental disorder\Developmental hereditary disorder\Megalencephalic leukoencephalopathy with subcortical cysts
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephalic leukoencephalopathy with subcortical cysts
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephalic leukoencephalopathy with subcortical cysts

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

Descriptions:

Id Description Lang Type Status Case? Module

3009015016 Infantile leukoencephalopathy and megalencephaly en Synonym Active Entire term case insensitive SNOMED CT core module

3009036019 Megalencephalic leukoencephalopathy with subcortical cysts en Synonym Active Entire term case insensitive SNOMED CT core module

3009142018 Vacuolating leukoencephalopathy en Synonym Active Entire term case insensitive SNOMED CT core module

3009187019 Leukoencephalopathy with swelling and cysts en Synonym Active Entire term case insensitive SNOMED CT core module

3009208017 Vacuolating megalencephalic leukoencephalopathy with subcortical cysts en Synonym Active Entire term case insensitive SNOMED CT core module

3009253015 Megalencephalic leukoencephalopathy with subcortical cysts (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3009374016 Van der Knapp disease en Synonym Active Entire term case sensitive SNOMED CT core module

3789591012 Vacuolating megalencephalic leucoencephalopathy with subcortical cysts en Synonym Active Entire term case insensitive SNOMED CT core module

3789592017 Vacuolating leucoencephalopathy en Synonym Active Entire term case insensitive SNOMED CT core module

3789593010 Infantile leucoencephalopathy and megalencephaly en Synonym Active Entire term case insensitive SNOMED CT core module

3789594016 Megalencephalic leucoencephalopathy with subcortical cysts en Synonym Active Entire term case insensitive SNOMED CT core module

3789595015 Leucoencephalopathy with swelling and cysts en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Megalencephalic leukoencephalopathy with subcortical cysts	Is a	Macroencephaly	true	Inferred relationship	Existential restriction modifier
Megalencephalic leukoencephalopathy with subcortical cysts	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Megalencephalic leukoencephalopathy with subcortical cysts	Is a	Leukoencephalopathy	true	Inferred relationship	Existential restriction modifier
Megalencephalic leukoencephalopathy with subcortical cysts	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Megalencephalic leukoencephalopathy with subcortical cysts	Finding site	Cerebral white matter structure	true	Inferred relationship	Existential restriction modifier	2
Megalencephalic leukoencephalopathy with subcortical cysts	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Megalencephalic leukoencephalopathy with subcortical cysts	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Megalencephalic leukoencephalopathy with subcortical cysts	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	3
Megalencephalic leukoencephalopathy with subcortical cysts	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier	4
Megalencephalic leukoencephalopathy with subcortical cysts	Finding site	Entire brain	false	Inferred relationship	Existential restriction modifier	4
Megalencephalic leukoencephalopathy with subcortical cysts	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier	1
Megalencephalic leukoencephalopathy with subcortical cysts	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Megalencephalic leukoencephalopathy with subcortical cysts	Finding site	Entire brain	false	Inferred relationship	Existential restriction modifier	1
Megalencephalic leukoencephalopathy with subcortical cysts	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Megalencephalic leukoencephalopathy with subcortical cysts	Associated morphology	Enlargement	true	Inferred relationship	Existential restriction modifier	1
Megalencephalic leukoencephalopathy with subcortical cysts	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	1
Megalencephalic leukoencephalopathy with subcortical cysts	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

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	Active	Entire term case insensitive	SNOMED CT core module
3009036019	Megalencephalic leukoencephalopathy with subcortical cysts	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3009142018	Vacuolating leukoencephalopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3009187019	Leukoencephalopathy with swelling and cysts	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3009208017	Vacuolating megalencephalic leukoencephalopathy with subcortical cysts	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3009253015	Megalencephalic leukoencephalopathy with subcortical cysts (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3009374016	Van der Knapp disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3789591012	Vacuolating megalencephalic leucoencephalopathy with subcortical cysts	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3789592017	Vacuolating leucoencephalopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3789593010	Infantile leucoencephalopathy and megalencephaly	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3789594016	Megalencephalic leucoencephalopathy with subcortical cysts	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3789595015	Leucoencephalopathy with swelling and cysts	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module