771234002: Isolated bilateral hemispheric cerebellar hypoplasia (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Head finding (finding)\Finding of head region\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)

\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (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 hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (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 malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (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 hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (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 malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (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 hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (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 malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Isolated bilateral hemispheric cerebellar hypoplasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3705183017 Isolated bilateral hemispheric cerebellar hypoplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705184011 Isolated bilateral hemispheric cerebellar hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705185012 A rare cerebellar malformation with characteristics of hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected individuals present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor and possible emotional fragility and mild depression. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5405039015 Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405040018 Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterised by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression. 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
Isolated bilateral hemispheric cerebellar hypoplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Isolated bilateral hemispheric cerebellar hypoplasia (disorder)	Finding site	Cerebral hemisphere structure (body structure)	false	Inferred relationship	Some	1
Isolated bilateral hemispheric cerebellar hypoplasia (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Isolated bilateral hemispheric cerebellar hypoplasia (disorder)	Is a	Congenital hypoplasia of cerebrum	false	Inferred relationship	Some
Isolated bilateral hemispheric cerebellar hypoplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Isolated bilateral hemispheric cerebellar hypoplasia (disorder)	Is a	Finding of head region	true	Inferred relationship	Some
Isolated bilateral hemispheric cerebellar hypoplasia (disorder)	Is a	Congenital hypoplasia of cerebral hemisphere	false	Inferred relationship	Some
Isolated bilateral hemispheric cerebellar hypoplasia (disorder)	Is a	Congenital cerebellar hypoplasia	true	Inferred relationship	Some
Isolated bilateral hemispheric cerebellar hypoplasia (disorder)	Finding site	Structure of right cerebellar hemisphere	true	Inferred relationship	Some	1
Isolated bilateral hemispheric cerebellar hypoplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Isolated bilateral hemispheric cerebellar hypoplasia (disorder)	Finding site	Structure of left cerebellar hemisphere	true	Inferred relationship	Some	2
Isolated bilateral hemispheric cerebellar hypoplasia (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Isolated bilateral hemispheric cerebellar hypoplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3705183017	Isolated bilateral hemispheric cerebellar hypoplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705184011	Isolated bilateral hemispheric cerebellar hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705185012	A rare cerebellar malformation with characteristics of hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected individuals present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor and possible emotional fragility and mild depression.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405039015	Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405040018	Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterised by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core