111505001: Muscle-eye-brain disease, congenital muscular dystrophy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \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, congenital muscular dystrophy
• \Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \Muscle finding\Myopathy\...
• \Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Muscle-eye-brain disease, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Muscle-eye-brain disease, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Muscle-eye-brain disease, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \Disease\Myopathy\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Myopathy\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \Disease\Chronic disease\Chronic nervous system disorder\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1219661011	Cerebro-oculo-dysgenesis-muscular dystrophy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
1219662016	COD-MD - Cerebro-oculo-dysgenesis-muscular dystrophy syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
178747011	Muscle-eye-brain disease, congenital muscular dystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
632260014	Muscle-eye-brain disease, congenital muscular dystrophy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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