770786001: Hereditary inclusion body myopathy type 4 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Myopathy with cytoplasmic inclusions (disorder)\Hereditary inclusion body myopathy type 4 (disorder)
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Myopathy with cytoplasmic inclusions (disorder)\Hereditary inclusion body myopathy type 4 (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Hereditary inclusion body myopathy type 4 (disorder)
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Myopathy with cytoplasmic inclusions (disorder)\Hereditary inclusion body myopathy type 4 (disorder)
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Myopathy with cytoplasmic inclusions (disorder)\Hereditary inclusion body myopathy type 4 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary inclusion body myopathy type 4 (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary inclusion body myopathy type 4 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary inclusion body myopathy type 4 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Myopathy with cytoplasmic inclusions (disorder)\Hereditary inclusion body myopathy type 4 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary inclusion body myopathy type 4 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary inclusion body myopathy type 4 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Myopathy with cytoplasmic inclusions (disorder)\Hereditary inclusion body myopathy type 4 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Myopathy with cytoplasmic inclusions (disorder)\Hereditary inclusion body myopathy type 4 (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Myopathy with cytoplasmic inclusions (disorder)\Hereditary inclusion body myopathy type 4 (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Myopathy with cytoplasmic inclusions (disorder)\Hereditary inclusion body myopathy type 4 (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Hereditary inclusion body myopathy type 4 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Myopathy with cytoplasmic inclusions (disorder)\Hereditary inclusion body myopathy type 4 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702791012	Hereditary inclusion body myopathy type 4 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702792017	Hereditary inclusion body myopathy type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404929016	Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404930014	Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterised by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702791012	Hereditary inclusion body myopathy type 4 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702792017	Hereditary inclusion body myopathy type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702793010	A rare non-dystrophic myopathy with characteristics of slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404929016	Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404930014	Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterised by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3444721001000119	Einschlusskörperchenmyopathie, hereditäre, Typ 4	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1015471000172118	myopathie à corps d'inclusion héréditaire type 4	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1017291000172112	HIBM4 - hereditary inclusion body myopathy type 4	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1015471000172118	myopathie à corps d'inclusion héréditaire type 4	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1017291000172112	HIBM4 - hereditary inclusion body myopathy type 4	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3444721001000119	Einschlusskörperchenmyopathie, hereditäre, Typ 4	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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