253168004: Familial megalencephaly (disorder)

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

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Familial 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)\Macroencephaly\Familial 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)\Macroencephaly\Familial megalencephaly (disorder)

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

\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Familial megalencephaly (disorder)

\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Familial megalencephaly (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Familial 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)\Macroencephaly\Familial 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)\Macroencephaly\Familial 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)\Macroencephaly\Familial megalencephaly (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Familial megalencephaly (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Familial megalencephaly (disorder)
\Disease\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)\Macroencephaly\Familial megalencephaly (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Familial 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)\Macroencephaly\Familial megalencephaly (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Familial megalencephaly (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

377060010 Familial megalencephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

643895010 Familial megalencephaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1716541000052114 familjär megalencefali sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial megalencephaly (disorder)	Is a	Macroencephaly	true	Inferred relationship	Some
Familial megalencephaly (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	1
Familial megalencephaly (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
Familial megalencephaly (disorder)	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Familial megalencephaly (disorder)	Associated morphology	kongenital hypertrofi	false	Inferred relationship	Some	1
Familial megalencephaly (disorder)	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	3
Familial megalencephaly (disorder)	Finding site	Head structure	false	Inferred relationship	Some	2
Familial megalencephaly (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Familial megalencephaly (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	1
Familial megalencephaly (disorder)	Associated morphology	kongenital hypertrofi	false	Inferred relationship	Some	1
Familial megalencephaly (disorder)	Associated morphology	medfödd förstoring	false	Inferred relationship	Some	2
Familial megalencephaly (disorder)	Finding site	Entire brain	false	Inferred relationship	Some	2
Familial megalencephaly (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Familial megalencephaly (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
Familial megalencephaly (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	1
Familial megalencephaly (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Familial megalencephaly (disorder)	Associated morphology	medfödd förstoring	false	Inferred relationship	Some	3
Familial megalencephaly (disorder)	Finding site	Entire brain	false	Inferred relationship	Some	3
Familial megalencephaly (disorder)	Finding site	Entire brain	false	Inferred relationship	Some	1
Familial megalencephaly (disorder)	Associated morphology	medfödd förstoring	false	Inferred relationship	Some	1
Familial megalencephaly (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Familial megalencephaly (disorder)	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1
Familial megalencephaly (disorder)	Finding site	Cerebrum	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
377060010	Familial megalencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
643895010	Familial megalencephaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1716541000052114	familjär megalencefali	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)