720825005: Cystic leukoencephalopathy without megalencephaly (disorder)

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

\Head finding (finding)\Mass of head (finding)\Intracranial mass\Mass lesion of brain (finding)\Cerebral cyst\Cystic leukoencephalopathy without megalencephaly (disorder)
\Head finding (finding)\Finding of brain\Mass lesion of brain (finding)\Cerebral cyst\Cystic leukoencephalopathy without megalencephaly (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Lesion of brain\Cerebral cyst\Cystic leukoencephalopathy without megalencephaly (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cystic leukoencephalopathy without megalencephaly (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\Cystic leukoencephalopathy without megalencephaly (disorder)
\Head finding (finding)\Finding of head region\Leukoencephalopathy\Cystic leukoencephalopathy without megalencephaly (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cystic leukoencephalopathy without megalencephaly (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral cyst\Cystic leukoencephalopathy without megalencephaly (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cystic leukoencephalopathy without megalencephaly (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Cystic leukoencephalopathy without megalencephaly (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Cystic leukoencephalopathy without megalencephaly (disorder)

\Mass of body structure\Mass of body region\Mass of head and/or neck (finding)\Mass of head (finding)\Intracranial mass\Mass lesion of brain (finding)\Cerebral cyst\Cystic leukoencephalopathy without megalencephaly (disorder)
\Mass of body structure\Space-occupying lesion of nervous system\Mass lesion of brain (finding)\Cerebral cyst\Cystic leukoencephalopathy without megalencephaly (disorder)
\Mass of body structure\Space-occupying lesion of nervous system\Cyst of central nervous system\Cerebral cyst\Cystic leukoencephalopathy without megalencephaly (disorder)

\Neurological lesion\Lesion of brain\Cerebral cyst\Cystic leukoencephalopathy without megalencephaly (disorder)
\Neurological lesion\Space-occupying lesion of nervous system\Mass lesion of brain (finding)\Cerebral cyst\Cystic leukoencephalopathy without megalencephaly (disorder)
\Neurological lesion\Space-occupying lesion of nervous system\Cyst of central nervous system\Cerebral cyst\Cystic leukoencephalopathy without megalencephaly (disorder)

\Central nervous system finding\Finding of brain\Mass lesion of brain (finding)\Cerebral cyst\Cystic leukoencephalopathy without megalencephaly (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Lesion of brain\Cerebral cyst\Cystic leukoencephalopathy without megalencephaly (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cystic leukoencephalopathy without megalencephaly (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\Cystic leukoencephalopathy without megalencephaly (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Cyst of central nervous system\Cerebral cyst\Cystic leukoencephalopathy without megalencephaly (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cystic leukoencephalopathy without megalencephaly (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral cyst\Cystic leukoencephalopathy without megalencephaly (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cystic leukoencephalopathy without megalencephaly (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Cystic leukoencephalopathy without megalencephaly (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Cystic leukoencephalopathy without megalencephaly (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Cystic leukoencephalopathy without megalencephaly (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Cystic leukoencephalopathy without megalencephaly (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Cyst (disorder)\Cyst of central nervous system\Cerebral cyst\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Cyst of central nervous system\Cerebral cyst\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral cyst\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral cyst\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cystic leukoencephalopathy without megalencephaly (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cystic leukoencephalopathy without megalencephaly (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3322196014 Cystic leukoencephalopathy without megalencephaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3322197017 Cystic leukoencephalopathy without megalencephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3789565011 Cystic leucoencephalopathy without megalencephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402491018 Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402492013 Cystic leucoencephalopathy without megalencephaly is characterised by non-progressive leucoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cystic leukoencephalopathy without megalencephaly (disorder)	Is a	Leukoencephalopathy	true	Inferred relationship	Some
Cystic leukoencephalopathy without megalencephaly (disorder)	Is a	Cerebral cyst	true	Inferred relationship	Some
Cystic leukoencephalopathy without megalencephaly (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cystic leukoencephalopathy without megalencephaly (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
Cystic leukoencephalopathy without megalencephaly (disorder)	Is a	Anomalies of cerebrum	false	Inferred relationship	Some
Cystic leukoencephalopathy without megalencephaly (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Cystic leukoencephalopathy without megalencephaly (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Cystic leukoencephalopathy without megalencephaly (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Cystic leukoencephalopathy without megalencephaly (disorder)	Finding site	Cerebral white matter structure	false	Inferred relationship	Some	2
Cystic leukoencephalopathy without megalencephaly (disorder)	Associated morphology	Cyst	false	Inferred relationship	Some	3
Cystic leukoencephalopathy without megalencephaly (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Cystic leukoencephalopathy without megalencephaly (disorder)	Finding site	Temporal lobe structure	false	Inferred relationship	Some	3
Cystic leukoencephalopathy without megalencephaly (disorder)	Associated morphology	Cyst	true	Inferred relationship	Some	2
Cystic leukoencephalopathy without megalencephaly (disorder)	Finding site	Temporal lobe structure	true	Inferred relationship	Some	2
Cystic leukoencephalopathy without megalencephaly (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Cystic leukoencephalopathy without megalencephaly (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Cystic leukoencephalopathy without megalencephaly (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Cystic leukoencephalopathy without megalencephaly (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cystic leukoencephalopathy without megalencephaly (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Cystic leukoencephalopathy without megalencephaly (disorder)	Finding site	Cerebral white matter structure	true	Inferred relationship	Some	1
Cystic leukoencephalopathy without megalencephaly (disorder)	Is a	Congenital anomaly of cerebrum (disorder)	true	Inferred relationship	Some
Cystic leukoencephalopathy without megalencephaly (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cystic leukoencephalopathy without megalencephaly (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Cystic leukoencephalopathy without megalencephaly (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Cystic leukoencephalopathy without megalencephaly (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Cystic leukoencephalopathy without megalencephaly (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3322196014	Cystic leukoencephalopathy without megalencephaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322197017	Cystic leukoencephalopathy without megalencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3789565011	Cystic leucoencephalopathy without megalencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402491018	Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402492013	Cystic leucoencephalopathy without megalencephaly is characterised by non-progressive leucoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core