1255274002: Congenital myopathy with reduced type 2 muscle fibers (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 fibre type\Congenital myopathy with reduced type 2 muscle fibers

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with reduced type 2 muscle fibers

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

\Hereditary disorder of musculoskeletal system\Congenital myopathy with reduced type 2 muscle fibers

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with reduced type 2 muscle fibers

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with reduced type 2 muscle fibers

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital myopathy with reduced type 2 muscle fibers
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital myopathy with reduced type 2 muscle fibers
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital myopathy with reduced type 2 muscle fibers
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital myopathy with reduced type 2 muscle fibers
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Congenital myopathy with reduced type 2 muscle fibers
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with reduced type 2 muscle fibers
\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\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with reduced type 2 muscle fibers
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with reduced type 2 muscle fibers
\Disease\Congenital disease (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 fibre type\Congenital myopathy with reduced type 2 muscle fibers
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with reduced type 2 muscle fibers
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital myopathy with reduced type 2 muscle fibers
\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 fibre type\Congenital myopathy with reduced type 2 muscle fibers

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5145808016 Congenital myopathy with reduced type II muscle fibres en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5145809012 Congenital myopathy with type 2 muscle fibre atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5145810019 Congenital myopathy with type II fiber atrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5145811015 Congenital myopathy with reduced type II muscle fibers en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5145812010 Congenital myopathy with fast-twitch fiber atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5145813017 Congenital myopathy with fast-twitch fibre atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5145814011 Congenital myopathy with reduced type 2 muscle fibers en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5145815012 Congenital myopathy with type II fibre atrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5145816013 Congenital myopathy with reduced type 2 muscle fibers (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5145817016 Congenital myopathy with reduced type 2 muscle fibres en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5145818014 Congenital myopathy with type 2 muscle fiber atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5145819018 A rare congenital myopathy characterised by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibres. 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. Caused by homozygous mutation in the MYL1 gene on chromosome 2q32. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5145820012 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. Caused by homozygous mutation in the MYL1 gene on chromosome 2q32. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

13710691000172117 aangeboren spierziekte met atrofie van snelle spiervezels nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13710701000172117 aangeboren spierziekte met type 2-spiervezelatrofie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13710711000172119 congenitale myopathie met vermindering van type 2-spiervezels nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital myopathy with reduced type 2 muscle fibers	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Congenital myopathy with reduced type 2 muscle fibers	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Congenital myopathy with reduced type 2 muscle fibers	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital myopathy with reduced type 2 muscle fibers	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital myopathy with reduced type 2 muscle fibers	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1
Congenital myopathy with reduced type 2 muscle fibers	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital myopathy with reduced type 2 muscle fibers	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital myopathy with reduced type 2 muscle fibers	Is a	Myopathy with abnormality of histochemical fibre type	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5145808016	Congenital myopathy with reduced type II muscle fibres	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5145809012	Congenital myopathy with type 2 muscle fibre atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5145810019	Congenital myopathy with type II fiber atrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5145811015	Congenital myopathy with reduced type II muscle fibers	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5145812010	Congenital myopathy with fast-twitch fiber atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5145813017	Congenital myopathy with fast-twitch fibre atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5145814011	Congenital myopathy with reduced type 2 muscle fibers	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5145815012	Congenital myopathy with type II fibre atrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5145816013	Congenital myopathy with reduced type 2 muscle fibers (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5145817016	Congenital myopathy with reduced type 2 muscle fibres	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5145818014	Congenital myopathy with type 2 muscle fiber atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5145819018	A rare congenital myopathy characterised by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibres. 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. Caused by homozygous mutation in the MYL1 gene on chromosome 2q32.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5145820012	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. Caused by homozygous mutation in the MYL1 gene on chromosome 2q32.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13710691000172117	aangeboren spierziekte met atrofie van snelle spiervezels	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13710701000172117	aangeboren spierziekte met type 2-spiervezelatrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13710711000172119	congenitale myopathie met vermindering van type 2-spiervezels	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)