715436007: Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)

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

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (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\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (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\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (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\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)

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

\Finding of brain\Disorder of brain (disorder)\...

\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)

\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)

\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\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\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\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)

\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (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\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (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\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (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\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (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\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (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\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (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\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (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\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (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\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disease\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\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disease\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\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (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\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (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\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3302596011 Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302599016 Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302623015 Cerebellar hypoplasia and tapetoretinal degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

10615161000172119 hypoplasie congénitale du cervelet concomitante d'un dégénérescence tapétorétinienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

10615171000172111 hypoplasie cérébelleuse congénitale concomitante d'une dégénérescence tapétorétinienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5068221000172112 congenitale cerebellaire hypoplasie gelijktijdig met tapetoretinale degeneratie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Is a	Congenital cerebellar hypoplasia	true	Inferred relationship	Some
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Finding site	Structure of visual system (body structure)	false	Inferred relationship	Some
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Associated morphology	Hypoplasia	false	Inferred relationship	Some	2
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Finding site	Cerebellar structure	false	Inferred relationship	Some	2
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Finding site	Structure of visual system (body structure)	true	Inferred relationship	Some	2
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3302596011	Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302599016	Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302623015	Cerebellar hypoplasia and tapetoretinal degeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
10615161000172119	hypoplasie congénitale du cervelet concomitante d'un dégénérescence tapétorétinienne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10615171000172111	hypoplasie cérébelleuse congénitale concomitante d'une dégénérescence tapétorétinienne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5068221000172112	congenitale cerebellaire hypoplasie gelijktijdig met tapetoretinale degeneratie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)