253168004: Familial megalencephaly (disorder)

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

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

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

\Disease\Fetal and/or neonatal disorder\Congenital disease\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
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Familial megalencephaly
\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
\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
\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
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Familial megalencephaly
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Familial megalencephaly
\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
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Familial megalencephaly

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

5069291000241110 mégalencéphalie familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial megalencephaly	Is a	Macroencephaly	true	Inferred relationship	Some
Familial megalencephaly	Finding site	Brain structure	false	Inferred relationship	Some	1
Familial megalencephaly	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Familial megalencephaly	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Familial megalencephaly	Associated morphology	hypertrophie congénitale	false	Inferred relationship	Some	1
Familial megalencephaly	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	3
Familial megalencephaly	Finding site	Head structure	false	Inferred relationship	Some	2
Familial megalencephaly	Occurrence	Congenital	false	Inferred relationship	Some
Familial megalencephaly	Finding site	Brain structure	false	Inferred relationship	Some	1
Familial megalencephaly	Associated morphology	hypertrophie congénitale	false	Inferred relationship	Some	1
Familial megalencephaly	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	2
Familial megalencephaly	Finding site	Entire brain	false	Inferred relationship	Some	2
Familial megalencephaly	Occurrence	Congenital	true	Inferred relationship	Some	1
Familial megalencephaly	Associated morphology	anomalie du développement	false	Inferred relationship	Some	1
Familial megalencephaly	Finding site	Brain structure	false	Inferred relationship	Some	1
Familial megalencephaly	Occurrence	Congenital	false	Inferred relationship	Some	3
Familial megalencephaly	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	3
Familial megalencephaly	Finding site	Entire brain	false	Inferred relationship	Some	3
Familial megalencephaly	Finding site	Entire brain	false	Inferred relationship	Some	1
Familial megalencephaly	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	1
Familial megalencephaly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Familial megalencephaly	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1
Familial megalencephaly	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	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
5069291000241110	mégalencéphalie familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module