111505001: congenitale spierdystrofie type 'muscle-eye-brain disease' (aandoening)

• SNOMED CT Concept\Clinical finding (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 (disorder)\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 (disorder)\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle-eye-brain disease, congenital muscular dystrophy
• \Muscle finding\Disorder of muscle\...
• \Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\...
• \Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle-eye-brain disease, congenital muscular dystrophy
• \Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \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 (disorder)\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\Disorder of musculoskeletal system\...
• \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 (disorder)\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 (disorder)\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 myopathy (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (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, congenital muscular dystrophy
• \Disease\Disorder of foetus and/or newborn\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, congenital muscular dystrophy
• \Disease\Disorder of foetus and/or newborn\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, congenital muscular dystrophy
• \Disease\Disorder of foetus and/or newborn\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, 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\Disorder of nervous system (disorder)\Congenital neurological disorder (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, congenital muscular dystrophy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Muscle-eye-brain disease, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \Disease\Disorder of muscle\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Disorder of muscle\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Disorder of muscle\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle-eye-brain disease, congenital muscular dystrophy
• \Disease\Chronic disease\Chronic nervous system disorder (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 (disorder)\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 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, congenital muscular dystrophy
• \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, congenital muscular dystrophy
• \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, 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, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
178747011	Muscle-eye-brain disease, congenital muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
632260014	Muscle-eye-brain disease, congenital muscular dystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1219661011	Cerebro-oculo-dysgenesis-muscular dystrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1219662016	COD-MD - Cerebro-oculo-dysgenesis-muscular dystrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7086791000146113	congenitale spierdystrofie type 'muscle-eye-brain disease'	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7086801000146112	congenitale spierdystrofie type 'muscle-eye-brain disease' (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7086811000146114	congenitale spierdystrofie met MEB	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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