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

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Bonnemann Meinecke Reich syndrome

\Neurological lesion\Lesion of brain\Cerebral calcification\Bonnemann Meinecke Reich syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Lesion of brain\Cerebral calcification\Bonnemann Meinecke Reich syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Bonnemann Meinecke Reich syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral calcification\Bonnemann Meinecke Reich syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Bonnemann Meinecke Reich syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Cerebral calcification\Bonnemann Meinecke Reich syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Bonnemann Meinecke Reich syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral calcification\Bonnemann Meinecke Reich syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Bonnemann Meinecke Reich syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral calcification\Bonnemann Meinecke Reich syndrome

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

\Finding of brain\Encephalopathy\...

\Lesion of brain\Cerebral calcification\Bonnemann Meinecke Reich syndrome

\Congenital anomaly of brain\Congenital anomaly of cerebrum\Bonnemann Meinecke Reich syndrome

\Degenerative brain disorder\Cerebral degeneration\Cerebral calcification\Bonnemann Meinecke Reich syndrome

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Bonnemann Meinecke Reich syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Bonnemann Meinecke Reich syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Bonnemann Meinecke Reich syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Bonnemann Meinecke Reich syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Bonnemann Meinecke Reich syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Bonnemann Meinecke Reich syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Congenital anomaly of retina\Bonnemann Meinecke Reich syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Bonnemann Meinecke Reich syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Bonnemann Meinecke Reich syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Bonnemann Meinecke Reich syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Bonnemann Meinecke Reich syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Bonnemann Meinecke Reich syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Bonnemann Meinecke Reich syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Bonnemann Meinecke Reich syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Bonnemann Meinecke Reich syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Bonnemann Meinecke Reich syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Bonnemann Meinecke Reich syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Bonnemann Meinecke Reich syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Bonnemann Meinecke Reich syndrome
\Disorder of head\Encephalopathy\Lesion of brain\Cerebral calcification\Bonnemann Meinecke Reich syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Bonnemann Meinecke Reich syndrome
\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral calcification\Bonnemann Meinecke Reich syndrome

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Bonnemann Meinecke Reich syndrome
\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Congenital anomaly of retina\Bonnemann Meinecke Reich syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Bonnemann Meinecke Reich syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Bonnemann Meinecke Reich syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Bonnemann Meinecke Reich syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Bonnemann Meinecke Reich syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Bonnemann Meinecke Reich syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Bonnemann Meinecke Reich syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Bonnemann Meinecke Reich syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Bonnemann Meinecke Reich syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Bonnemann Meinecke Reich syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Bonnemann Meinecke Reich syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Bonnemann Meinecke Reich syndrome
\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\Bonnemann Meinecke Reich syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Bonnemann Meinecke Reich syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Bonnemann Meinecke Reich syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Bonnemann Meinecke Reich syndrome

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3498635011 Encephalopathy, intracerebral calcification, retinal degeneration syndrome en Synonym Active Case insensitive SNOMED CT core

3498636012 Bonnemann Meinecke Reich syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Bonnemann Meinecke Reich syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Bonnemann Meinecke Reich syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Bonnemann Meinecke Reich syndrome	Is a	Anomalies of cerebrum	false	Inferred relationship	Some
Bonnemann Meinecke Reich syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Bonnemann Meinecke Reich syndrome	Is a	Congenital anomaly of retina	true	Inferred relationship	Some
Bonnemann Meinecke Reich syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Bonnemann Meinecke Reich syndrome	Associated morphology	Degeneration	false	Inferred relationship	Some	2
Bonnemann Meinecke Reich syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Some	1
Bonnemann Meinecke Reich syndrome	Associated morphology	Pathologic calcification	true	Inferred relationship	Some	1
Bonnemann Meinecke Reich syndrome	Finding site	Retinal structure	true	Inferred relationship	Some	2
Bonnemann Meinecke Reich syndrome	Is a	Congenital anomaly of cerebrum	true	Inferred relationship	Some
Bonnemann Meinecke Reich syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Bonnemann Meinecke Reich syndrome	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Some
Bonnemann Meinecke Reich syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	2
Bonnemann Meinecke Reich syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Bonnemann Meinecke Reich syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Bonnemann Meinecke Reich syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Bonnemann Meinecke Reich syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Bonnemann Meinecke Reich syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Bonnemann Meinecke Reich syndrome	Is a	Cerebral calcification	true	Inferred relationship	Some
Bonnemann Meinecke Reich syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Bonnemann Meinecke Reich syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Bonnemann Meinecke Reich syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Bonnemann Meinecke Reich syndrome	Is a	Degeneration of retina	true	Inferred relationship	Some
Bonnemann Meinecke Reich syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Bonnemann Meinecke Reich syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Bonnemann Meinecke Reich syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Bonnemann Meinecke Reich syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Bonnemann Meinecke Reich syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Bonnemann Meinecke Reich syndrome	Associated morphology	Degeneration	false	Inferred relationship	Some	5
Bonnemann Meinecke Reich syndrome	Finding site	Retinal structure	false	Inferred relationship	Some	5
Bonnemann Meinecke Reich syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Bonnemann Meinecke Reich syndrome	Associated morphology	Pathologic calcification	false	Inferred relationship	Some	4
Bonnemann Meinecke Reich syndrome	Finding site	Structure of cerebrum	false	Inferred relationship	Some	4
Bonnemann Meinecke Reich syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

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
3498634010	Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3498635011	Encephalopathy, intracerebral calcification, retinal degeneration syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3498636012	Bonnemann Meinecke Reich syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core