771476007: Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome

\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel\Vascular insufficiency\Ischemia\Cerebral ischemia\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel\Vascular insufficiency\Ischemia\Cerebral ischemia\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Leukoencephalopathy\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Leukoencephalopathy\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome

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

\Finding of brain\Disorder of brain\Leukoencephalopathy\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Finding of head region\Leukoencephalopathy\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disorder of head\Disorder of brain\Leukoencephalopathy\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome

\Cardiovascular finding\Perfusion finding\Ischemia\Cerebral ischemia\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Cerebrovascular disease\Cerebral ischemia\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel\Vascular insufficiency\Ischemia\Cerebral ischemia\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel\Vascular insufficiency\Ischemia\Cerebral ischemia\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Leukoencephalopathy\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Cerebrovascular disease\Cerebral ischemia\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel\Vascular insufficiency\Ischemia\Cerebral ischemia\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Disorder of head\Disorder of brain\Leukoencephalopathy\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Disorder of soft tissue\Disorder of blood vessel\Vascular insufficiency\Ischemia\Cerebral ischemia\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3706380017 Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3706381018 Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3706382013 Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Is a	Cerebral ischemia	true	Inferred relationship	Existential restriction modifier
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Is a	Global developmental delay	true	Inferred relationship	Existential restriction modifier
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Finding site	Cerebrovascular system structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Is a	Autosomal recessive retinitis pigmentosa	true	Inferred relationship	Existential restriction modifier
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Is a	Leukoencephalopathy	true	Inferred relationship	Existential restriction modifier
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Is a	Congenital vascular disorder	false	Inferred relationship	Existential restriction modifier
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	5
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	5
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Finding site	Retinal structure	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	5
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	5
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	4
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Finding site	Cerebral white matter structure	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Is a	Congenital cardiovascular disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Finding site	Blood vessel structure	true	Inferred relationship	Existential restriction modifier	6
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	7
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3706380017	Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3706381018	Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3706382013	Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module