771234002: Isolated bilateral hemispheric cerebellar hypoplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia

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

\Finding of brain\Encephalopathy\Congenital anomaly of brain\...

\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia

\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia

\Finding of head region\Isolated bilateral hemispheric cerebellar hypoplasia

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia

\Disease\Disorder of body system\Neurological 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 hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disease\Congenital disease\Congenital anomaly\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 hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disease\Developmental disorder\Congenital anomaly\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 hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Isolated bilateral hemispheric cerebellar hypoplasia

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3705184011 Isolated bilateral hemispheric cerebellar hypoplasia en Synonym Active Case insensitive 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 Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Isolated bilateral hemispheric cerebellar hypoplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Isolated bilateral hemispheric cerebellar hypoplasia	Is a	Finding of head region	true	Inferred relationship	Some
Isolated bilateral hemispheric cerebellar hypoplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Isolated bilateral hemispheric cerebellar hypoplasia	Finding site	Cerebral hemisphere structure	true	Inferred relationship	Some	1
Isolated bilateral hemispheric cerebellar hypoplasia	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Isolated bilateral hemispheric cerebellar hypoplasia	Is a	Congenital hypoplasia of cerebrum	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3705183017	Isolated bilateral hemispheric cerebellar hypoplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3705184011	Isolated bilateral hemispheric cerebellar hypoplasia	en	Synonym	Active	Case insensitive	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	Active	Case sensitive	SNOMED CT core