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

SNOMED CT Concept\Clinical finding\...

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

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

\Finding of brain\Encephalopathy\...

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

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

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

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

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3302599016 Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration en Synonym Active Case insensitive SNOMED CT core

3302623015 Cerebellar hypoplasia and tapetoretinal degeneration en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302596011	Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3302599016	Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration	en	Synonym	Active	Case insensitive	SNOMED CT core
3302623015	Cerebellar hypoplasia and tapetoretinal degeneration	en	Synonym	Active	Case insensitive	SNOMED CT core