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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior 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 (disorder)\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\Disorder of brain (disorder)\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Central nervous system finding\Disorder of the central nervous system (disorder)\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 (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Central nervous system finding\Disorder of the central nervous system (disorder)\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 (disorder)\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)\...
• \Finding of brain\Disorder of brain (disorder)\...
• \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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\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 (finding)\Impaired cognition (finding)\Intellectual disability\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Functional finding\Cognitive function finding (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\Disorder of muscle\...
• \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 (disorder)\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\Disorder of musculoskeletal system\...
• \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 (disorder)\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 (disorder)\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 (disorder)\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 (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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 (disorder)\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\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Disorder of body system\Disorder of nervous system (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\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \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\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \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\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \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\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \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\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Disorder of body system\Disorder of musculoskeletal 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\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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 (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Disorder of muscle\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Congenital disease (disorder)\Congenital malformation\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 (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Congenital disease (disorder)\Congenital malformation\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 (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Congenital disease (disorder)\Congenital malformation\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 (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 (disorder)\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 malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Developmental disorder\Congenital malformation\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 malformation\Congenital anomaly of head\Congenital anomaly of brain\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Developmental disorder\Congenital malformation\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 (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Developmental disorder\Congenital malformation\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, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3766824012	Muscle eye brain disease with bilateral multicystic leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3766825013	Muscle eye brain disease with bilateral multicystic leukodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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