240082006: Myopathy with abnormality of histochemical fiber type (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\Myopathy with abnormality of histochemical fiber type

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type

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

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type

\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\Myopathy with abnormality of histochemical fiber type
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type
\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\Myopathy with abnormality of histochemical fiber type
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type

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

359685013 Myopathy with abnormality of histochemical fibre type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

359686014 Myopathy with abnormality of histochemical fiber type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

629176019 Myopathy with abnormality of histochemical fiber type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5036611000241118 myopathie avec anomalie des fibres de type histochimique 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
Myopathy with abnormality of histochemical fiber type	Is a	Congenital myopathy	false	Inferred relationship	Some
Myopathy with abnormality of histochemical fiber type	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Myopathy with abnormality of histochemical fiber type	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Myopathy with abnormality of histochemical fiber type	Finding site	Skeletal muscle system structure	false	Inferred relationship	Some
Myopathy with abnormality of histochemical fiber type	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Myopathy with abnormality of histochemical fiber type	Occurrence	Congenital	false	Inferred relationship	Some
Myopathy with abnormality of histochemical fiber type	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Myopathy with abnormality of histochemical fiber type	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Myopathy with abnormality of histochemical fiber type	Occurrence	Congenital	false	Inferred relationship	Some	2
Myopathy with abnormality of histochemical fiber type	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Myopathy with abnormality of histochemical fiber type	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Myopathy with abnormality of histochemical fiber type	Occurrence	Congenital	true	Inferred relationship	Some	1
Myopathy with abnormality of histochemical fiber type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Myopathy with abnormality of histochemical fiber type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Myopathy with type I hypotrophy	Is a	True	Myopathy with abnormality of histochemical fiber type	Inferred relationship	Some
A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness.	Is a	True	Myopathy with abnormality of histochemical fiber type	Inferred relationship	Some
Congenital myopathy with uniform fiber type	Is a	True	Myopathy with abnormality of histochemical fiber type	Inferred relationship	Some
A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal.	Is a	True	Myopathy with abnormality of histochemical fiber type	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
359685013	Myopathy with abnormality of histochemical fibre type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
359686014	Myopathy with abnormality of histochemical fiber type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629176019	Myopathy with abnormality of histochemical fiber type (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5036611000241118	myopathie avec anomalie des fibres de type histochimique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module