890368007: Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...
• \Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Muscle finding\Myopathy\...
• \Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \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\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Myopathy\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Myopathy\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \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\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \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\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
• \Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation

Status: current, Primitive. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4012914017	Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4012916015	Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4012915016	Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterized by severe muscular dystrophy presenting at birth or in the first few weeks of life.	en	Definition	Active	Case sensitive	SNOMED CT core
4355090018	Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterised by severe muscular dystrophy presenting at birth or in the first few weeks of life.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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