1234819007: Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \Muscle finding\Disorder of skeletal AND/OR smooth 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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \Disease\Disorder of body system\Disorder of nervous system\Chronic nervous system disorder\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \Disease\Disorder of skeletal AND/OR smooth 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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \Disease\Disorder of skeletal AND/OR smooth 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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \Disease\Metabolic disease\Chronic metabolic disorder\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \Disease\Chronic disease\Chronic metabolic disorder\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \Disease\Chronic disease\Chronic nervous system disorder\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \Disease\Developmental disorder\Developmental delay\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
• \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\Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2022. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5084104014	Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
5084105010	Limb girdle muscular dystrophy due to POMK deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
5084106011	Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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