240055003: autosomaal recessieve spierdystrofie met abnormaal dystrofine geassocieerd proteïne complex (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\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Muscular dystrophy\Hereditary progressive muscular dystrophy\...
• \Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Muscle finding\Disorder of muscle\...
• \Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\...
• \Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\...
• \Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\...
• \Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\...
• \Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\...
• \Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \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\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \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\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of muscle\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of muscle\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of muscle\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \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\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
• \Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein

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
359651012	Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629146014	Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7936851000146114	autosomaal recessieve spierdystrofie met abnormaal dystrofine geassocieerd proteïne complex	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7936861000146112	autosomaal recessieve spierdystrofie met abnormaal DAPC	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7936871000146118	autosomaal recessieve spierdystrofie met abnormaal dystrofine geassocieerd proteïne complex (aandoening)	nl	Fully specified name	Active	Entire term 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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