82077006: myotubulaire myopathie (aandoening)

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\...

\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Myotubular myopathy

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

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Myotubular myopathy
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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 of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy
\Disease\Disorder of muscle\Congenital myopathy (disorder)\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

13241000146118 myotubulaire myopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13251000146115 centronucleaire myopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

943711000146112 myotubulaire 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
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	congenitale anomalie (afwijkende morfologie)	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	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Myotubular myopathy	Occurrence	Congenital	false	Inferred relationship	Some	2
Myotubular myopathy	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	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 (morphologic abnormality)	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
Autosomal dominant centronuclear myopathy (disorder)	Is a	True	Myotubular myopathy	Inferred relationship	Some
X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)	Is a	True	Myotubular myopathy	Inferred relationship	Some

Reference Sets

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

Dutch pathology simple reference set (foundation metadata concept)