127954009: Skeletal muscle structure (body structure)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary).\Structure of striated muscle and/or smooth muscle\...

\Structure of striated muscle\Skeletal muscle structure

\Skeletal and/or smooth muscle structure (body structure)\Skeletal muscle structure

\Body system structure\Structure of musculoskeletal system (body structure)\Skeletal muscle system structure\Skeletal muscle and/or tendon structure\Skeletal muscle structure

\Body tissue structure (body structure)\Structure of soft tissue (body structure)\Skeletal muscle structure

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Skeletal muscle structure	Is a	Skeletal muscle system structure	false	Inferred relationship	Some
Skeletal muscle structure	Is a	Skeletal and/or smooth muscle structure (body structure)	true	Inferred relationship	Some
Skeletal muscle structure	del af	Entire skeletal muscle system	false	Additional relationship	Some
Skeletal muscle structure	Is a	Structure of soft tissue (body structure)	true	Inferred relationship	Some
Skeletal muscle structure	Is a	Skeletal muscle and/or tendon structure	true	Inferred relationship	Some
Skeletal muscle structure	Is a	Structure of striated muscle	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Western type of congenital muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Hereditary myopathy limited to females	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Congenital muscular hypertrophy-cerebral syndrome	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Accessory skeletal muscle	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Nemaline myopathy (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Benign congenital muscular dystrophy with finger flexion contractures (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Autosomal dominant muscular dystrophy with limb girdle distribution (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Eichsfeld type congenital muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
X-linked limb girdle muscular dystrophy with normal dystrophin	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Myotubular myopathy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Ullrich congenital muscular dystrophy (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Benign congenital myopathy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Multi-core congenital myopathy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Facioscapulohumeral muscular dystrophy (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
X-linked muscular dystrophy with limb girdle distribution	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Becker muscular dystrophy (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Late onset proximal muscular dystrophy with dysarthria	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Manifesting female carrier of X-linked muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Myopathy with cytoplasmic inclusions	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Myopathy with type I hypotrophy (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Severe X-linked myotubular myopathy (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Oculopharyngeal muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Congenital hereditary muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Blandet kongenit myopati	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Duchenne muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
X-linked muscular dystrophy not predominantly limb girdle	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Zebra body myopathy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Distal muscular dystrophy, Miyoshi type	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Autosomal recessiv muskeldystrofi forårsaget af gen med locus på kromosom 15q	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Autosomal recessive centronuclear myopathy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Walker-Warburg congenital muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Hutterite type of muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Reunion-Indiana Amish type muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Muscle-eye-brain disease, congenital muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Myopathy with abnormality of histochemical fibre type	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Congenital anomaly of skeletal muscle	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Nemaline myopathy, early onset type	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Sarcotubular myopathy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Emery-Dreifuss muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Benign scapuloperoneal muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Tibial muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	1
Congenital absence of skeletal muscle	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Distal muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Autosomal dominant muscular dystrophy with gene located at 5q31	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Kongenit muskeldystrofi	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Distal muskeldystrofi med debut i voksenalder	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Scapulohumeral muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Merosin deficient congenital muscular dystrophy (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Congenital myopathy with uniform fiber type	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Intermediate X-linked muscular dystrophy (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Floppy infant syndrome	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy not predominantly limb girdle	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Fukuyama congenital muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
An inherited neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by (predominantly dominant) mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s).	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Myotubular myopathy with type I atrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
X-linked muscular dystrophy with abnormal dystrophin	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Myopathy with tubular aggregates	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy not predominantly limb girdle	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Benign skapuloperoneal muskeldystrofi med kardiomyopati	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Early onset myopathy with fatal cardiomyopathy (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Inclusion body myopathy 2 (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Distal myopathy 2	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Walker-Warburg congenital muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	5
Combined malformation of central nervous system and skeletal muscle (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Muscle eye brain disease	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Congenital myotonic dystrophy	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Congenital myotonia, autosomal dominant form	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Congenital myotonia, autosomal recessive form	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Congenital myasthenic syndrome (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	1
Congenital end-plate acetylcholine receptor deficiency	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	1
Benign congenital hypotonia	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Brody myopathy	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Cap myopathy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
atrofisk myosit	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Floppy infant syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Congenital absence of skeletal muscle	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Sarcotubular myopathy	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Toxoplasma myositis (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Acquired hypotonia	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Excision of intramuscular lipoma	Procedure site - Direct (attribute)	True	Skeletal muscle structure	Inferred relationship	Some	1
Finding of shortened, hypertonic pelvic floor musculature	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Cap myopathy	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Rippling muscle disease (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Western type of congenital muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Eichsfeld type congenital muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Ullrich congenital muscular dystrophy (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Walker-Warburg congenital muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Kongenit muskeldystrofi	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Progressive myositis ossificans	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Severe scapuloperoneal muscular dystrophy with cardiomyopathy	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Tibial muscular dystrophy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Caveolin 3 related distal myopathy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Infection of muscle graft	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Myopathy due to Cushing's syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Toxic myopathy	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
1241017	Skeletal muscle	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
474270014	Skeletal muscle structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
731896016	Skeletal muscle structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3258151000005119	Skeletmuskelstruktur	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)