699269005: myofibrillaire myopathie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myofibrillar myopathy

\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myofibrillar myopathy

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myofibrillar myopathy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myofibrillar myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2983495012 Myofibrillar myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2983503012 Myofibrillar myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

739471000146115 myofibrillaire myopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

739481000146118 myofibrillaire myopathie (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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myofibrillar myopathy	Is a	Disorder of skeletal muscle	true	Inferred relationship	Some
Myofibrillar myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Muscular dystrophy Selcen type (disorder)	Is a	True	Myofibrillar myopathy	Inferred relationship	Some
Muscle filaminopathy	Is a	True	Myofibrillar myopathy	Inferred relationship	Some
Spheroid body myopathy	Is a	True	Myofibrillar myopathy	Inferred relationship	Some
Distal myotilinopathy	Is a	True	Myofibrillar myopathy	Inferred relationship	Some
Late-onset distal myopathy Markesbery Griggs type (disorder)	Is a	True	Myofibrillar myopathy	Inferred relationship	Some
Desmin-related myofibrillar myopathy (disorder)	Is a	True	Myofibrillar myopathy	Inferred relationship	Some
Fatal infantile hypertonic myofibrillar myopathy (disorder)	Is a	True	Myofibrillar myopathy	Inferred relationship	Some
Alpha-B crystallin-related late-onset myopathy	Is a	True	Myofibrillar myopathy	Inferred relationship	Some
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Is a	True	Myofibrillar myopathy	Inferred relationship	Some
Congenital generalized hypercontractile muscle stiffness syndrome	Is a	True	Myofibrillar myopathy	Inferred relationship	Some
Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome	Is a	True	Myofibrillar myopathy	Inferred relationship	Some

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

Dutch pathology simple reference set (foundation metadata concept)