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82077006: Myotubular myopathy (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\Myotubular myopathy

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy

\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\...

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy
\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\Myotubular myopathy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy

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

Descriptions:

Id Description Lang Type Status Case? Module

136147016 Myotubular myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

136148014 Centronuclear myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

823423014 Myotubular myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

537561000172110 myopathie myotubulaire 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
Myotubular myopathy	Is a	Congenital myopathy	false	Inferred relationship	Some
Myotubular myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Myotubular myopathy	Is a	Disorder of skeletal muscle	false	Inferred relationship	Some
Myotubular myopathy	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Myotubular myopathy	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Myotubular myopathy	Occurrence	Congenital	false	Inferred relationship	Some
Myotubular myopathy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Myotubular myopathy	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Myotubular myopathy	Occurrence	Congenital	false	Inferred relationship	Some	2
Myotubular myopathy	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Myotubular myopathy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Myotubular myopathy	Occurrence	Congenital	true	Inferred relationship	Some	1
Myotubular myopathy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Myotubular myopathy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive centronuclear myopathy	Is a	True	Myotubular myopathy	Inferred relationship	Some
Myotubular myopathy with type I atrophy	Is a	True	Myotubular myopathy	Inferred relationship	Some
Severe X-linked myotubular myopathy (disorder)	Is a	True	Myotubular myopathy	Inferred relationship	Some
A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features.	Is a	True	Myotubular myopathy	Inferred relationship	Some
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.	Is a	True	Myotubular myopathy	Inferred relationship	Some
A rare centronuclear myopathy characterised by a variable severity of muscle weakness which is typically asymmetric with a limb-girdle pattern. Severity can range from skeletal asymmetry to loss of ambulation. Other manifestations may include respiratory muscle weakness, urinary incontinence, bulbar signs (facial weakness, limitation of extra-ocular movements, ophthalmoparesis, ptosis and dysarthria), or skeletal involvement (kyphoscoliosis, scoliosis, joint hyperlaxity, joint contractures of the lower extremities, foot deformities and hand and/or facial contractures). Many female carriers remain asymptomatic.	Is a	True	Myotubular myopathy	Inferred relationship	Some

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
136147016	Myotubular myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
136148014	Centronuclear myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
823423014	Myotubular myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
537561000172110	myopathie myotubulaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module