733049004: Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)

\Neurological lesion\Lesion of brain\Cerebral calcification\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)

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

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

\Lesion of brain\Cerebral calcification\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)

\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)

\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)

\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Degenerative disorder\Congenital degeneration of nervous system\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Degenerative disorder\Calcinosis\Cerebral calcification\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (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 anomaly of cerebrum (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (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 anomaly of cerebrum (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (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 anomaly of cerebrum (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498634010 Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498635011 Encephalopathy, intracerebral calcification, retinal degeneration syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498636012 Bonnemann Meinecke Reich syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3499948016 A syndrome of multiple congenital anomalies with characteristics of encephalopathy that predominantly occurs in the first year of life and presents as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. 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
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	Cerebral calcification	true	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	retard mental	false	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	Degeneration of retina	true	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Associated morphology	dégénérescence	false	Inferred relationship	Some	5
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Finding site	Retinal structure	false	Inferred relationship	Some	5
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Associated morphology	Pathologic calcification	false	Inferred relationship	Some	4
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Finding site	Cerebrum	false	Inferred relationship	Some	4
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	Anomalies of cerebrum	false	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	Congenital anomaly of retina	true	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Associated morphology	dégénérescence	false	Inferred relationship	Some	2
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Finding site	Cerebrum	true	Inferred relationship	Some	1
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Associated morphology	Pathologic calcification	true	Inferred relationship	Some	1
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Finding site	Retinal structure	true	Inferred relationship	Some	2
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	Congenital anomaly of cerebrum (disorder)	true	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	2
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

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Id	Description	Lang	Type	Status	Case?	Module
3498634010	Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498635011	Encephalopathy, intracerebral calcification, retinal degeneration syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498636012	Bonnemann Meinecke Reich syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499948016	A syndrome of multiple congenital anomalies with characteristics of encephalopathy that predominantly occurs in the first year of life and presents as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core