785298001: Muscle eye brain disease with bilateral multicystic leukodystrophy (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Muscle eye brain disease with bilateral multicystic leukodystrophy

\Neurological lesion\Leucodystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...

\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy

\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy

\Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Muscle eye brain disease with bilateral multicystic leukodystrophy

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

\Finding of brain\Encephalopathy\...

\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy

\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disorder of head\Encephalopathy\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy

\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Muscle eye brain disease with bilateral multicystic leukodystrophy

\Muscle finding\Myopathy\...

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy

\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\...

\Combined malformation of central nervous system and skeletal muscle\Muscle eye brain disease with bilateral multicystic leukodystrophy

\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Leucodystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\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\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Myopathy\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Myopathy\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3766821016 Muscle eye brain disease with bilateral multicystic leucodystrophy en Synonym Active Case insensitive SNOMED CT core

3766824012 Muscle eye brain disease with bilateral multicystic leukodystrophy en Synonym Active Case insensitive SNOMED CT core

3766825013 Muscle eye brain disease with bilateral multicystic leukodystrophy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3766883016 A rare genetic congenital muscular alpha-dystroglycanopathy with brain and eye anomalies. The disorder has characteristics of a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. There is evidence the disease is caused by homozygous mutation in the DAG1 gene on chromosome 3p21. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	Combined malformation of central nervous system and skeletal muscle	true	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	Chronic mental disorder	false	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	Intellectual disability	true	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	Leucodystrophy	true	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	Congenital anomaly of brain	true	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	Congenital hereditary muscular dystrophy	true	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	Congenital anomaly of eye	true	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Muscle eye brain disease with bilateral multicystic leukodystrophy	Occurrence	Congenital	true	Inferred relationship	Some	4
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Occurrence	Congenital	true	Inferred relationship	Some	2
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Muscle eye brain disease with bilateral multicystic leukodystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	3
Muscle eye brain disease with bilateral multicystic leukodystrophy	Finding site	Brain structure	true	Inferred relationship	Some	4
Muscle eye brain disease with bilateral multicystic leukodystrophy	Finding site	Myelinated nerve fibre structure	true	Inferred relationship	Some	1
Muscle eye brain disease with bilateral multicystic leukodystrophy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Muscle eye brain disease with bilateral multicystic leukodystrophy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	5
Muscle eye brain disease with bilateral multicystic leukodystrophy	Finding site	White matter structure of brain and spinal cord	true	Inferred relationship	Some	3
Muscle eye brain disease with bilateral multicystic leukodystrophy	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
Muscle eye brain disease with bilateral multicystic leukodystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Muscle eye brain disease with bilateral multicystic leukodystrophy	Clinical course	Progressive	true	Inferred relationship	Some	6
Muscle eye brain disease with bilateral multicystic leukodystrophy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Muscle eye brain disease with bilateral multicystic leukodystrophy	Finding site	Eye structure	true	Inferred relationship	Some	5
Muscle eye brain disease with bilateral multicystic leukodystrophy	Occurrence	Congenital	true	Inferred relationship	Some	5
Muscle eye brain disease with bilateral multicystic leukodystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Interprets	Intellectual ability	true	Inferred relationship	Some	7
Muscle eye brain disease with bilateral multicystic leukodystrophy	Has interpretation	Impaired	true	Inferred relationship	Some	7
Muscle eye brain disease with bilateral multicystic leukodystrophy	Interprets	Adaptation behaviour	true	Inferred relationship	Some	8
Muscle eye brain disease with bilateral multicystic leukodystrophy	Has interpretation	Impaired	true	Inferred relationship	Some	8

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3766821016	Muscle eye brain disease with bilateral multicystic leucodystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
3766824012	Muscle eye brain disease with bilateral multicystic leukodystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
3766825013	Muscle eye brain disease with bilateral multicystic leukodystrophy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3766883016	A rare genetic congenital muscular alpha-dystroglycanopathy with brain and eye anomalies. The disorder has characteristics of a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. There is evidence the disease is caused by homozygous mutation in the DAG1 gene on chromosome 3p21.	en	Definition	Active	Case sensitive	SNOMED CT core