699269005: Myofibrillar myopathy (disorder)

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

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

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

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myofibrillar myopathy

\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\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

2983495012 Myofibrillar myopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

907401000172111 myopathie myofibrillaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

907401000172111 myopathie myofibrillaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myofibrillar myopathy	Is a	Disorder of skeletal muscle	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myofibrillar myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Muscular dystrophy Selcen type (disorder)	Is a	True	Myofibrillar myopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Muscle filaminopathy	Is a	True	Myofibrillar myopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Spheroid body myopathy (disorder)	Is a	True	Myofibrillar myopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal myotilinopathy	Is a	True	Myofibrillar myopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Late-onset distal myopathy Markesbery Griggs type (disorder)	Is a	True	Myofibrillar myopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Desmin-related myofibrillar myopathy (disorder)	Is a	True	Myofibrillar myopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic skeletal muscle disease with characteristics of muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death. There is the disease is caused by homozygous mutation in the CRYAB gene on chromosome 11q23.	Is a	True	Myofibrillar myopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha-B crystallin-related late-onset myopathy (disorder)	Is a	True	Myofibrillar myopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects.	Is a	True	Myofibrillar myopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital generalized hypercontractile muscle stiffness syndrome (disorder)	Is a	True	Myofibrillar myopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome	Is a	True	Myofibrillar myopathy	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets