716998009: Joubert syndrome with ocular defect (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect

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

\Finding of brain\Disorder of brain\...

\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect

\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect

\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Joubert syndrome with ocular defect
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Joubert syndrome with ocular defect
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Joubert syndrome with ocular defect

\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Joubert syndrome with ocular defect
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disorder of head\Disorder of brain\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disorder of head\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Joubert syndrome with ocular defect
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Joubert syndrome with ocular defect
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Joubert syndrome with ocular defect
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Joubert syndrome with ocular defect

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Joubert syndrome with ocular defect
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Joubert syndrome with ocular defect
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Developmental disorder\Developmental hereditary disorder\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with ocular defect

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

Descriptions:

Id Description Lang Type Status Case? Module

3308130019 Joubert syndrome with ocular defect (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3308131015 Joubert syndrome with ocular defect en Synonym Active Entire term case sensitive SNOMED CT core module

3308132010 Joubert syndrome with retinopathy en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Joubert syndrome with ocular defect	Is a	Retinal disorder	true	Inferred relationship	Existential restriction modifier
Joubert syndrome with ocular defect	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Joubert syndrome with ocular defect	Is a	Joubert syndrome	true	Inferred relationship	Existential restriction modifier
Joubert syndrome with ocular defect	Finding site	Retinal structure	true	Inferred relationship	Existential restriction modifier	2
Joubert syndrome with ocular defect	Associated morphology	Aplasia	false	Inferred relationship	Existential restriction modifier	2
Joubert syndrome with ocular defect	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Joubert syndrome with ocular defect	Finding site	Cerebellar vermis structure	false	Inferred relationship	Existential restriction modifier	2
Joubert syndrome with ocular defect	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Joubert syndrome with ocular defect	Associated morphology	Aplasia	true	Inferred relationship	Existential restriction modifier	1
Joubert syndrome with ocular defect	Finding site	Cerebellar vermis structure	true	Inferred relationship	Existential restriction modifier	1
Joubert syndrome with ocular defect	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets