1202024009: Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation (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 fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation

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

\Hereditary disorder of musculoskeletal system\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation

\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 fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation

\Disease\Genetic disease\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
\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 fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
\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 fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
\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 fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
\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 fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4946208017 Autosomal dominant congenital fibre-type disproportion myopathy due to selenoprotein N mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4946209013 Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4946210015 Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4946211016 Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4946212011 Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4946222017 A rare autosomal dominant congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by SELENON (1p36.11) gene mutation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4946223010 A rare autosomal dominant congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Caused by SELENON (1p36.11) gene mutation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

13826001000172111 autosomaal dominante congenitale 'fiber-type disproportion myopathy' door SEPN1-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

13826011000172114 autosomaal dominante congenitale myopathie met vezeltypedisproportie door mutatie van selenoproteïne N nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

13826021000172116 autosomaal dominante CFTDM door SELENON-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation	Is a	Congenital fiber-type disproportion myopathy due to SELENON mutation	true	Inferred relationship	Some
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4946208017	Autosomal dominant congenital fibre-type disproportion myopathy due to selenoprotein N mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4946209013	Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4946210015	Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4946211016	Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4946212011	Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4946222017	A rare autosomal dominant congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by SELENON (1p36.11) gene mutation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4946223010	A rare autosomal dominant congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Caused by SELENON (1p36.11) gene mutation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13826001000172111	autosomaal dominante congenitale 'fiber-type disproportion myopathy' door SEPN1-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13826011000172114	autosomaal dominante congenitale myopathie met vezeltypedisproportie door mutatie van selenoproteïne N	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13826021000172116	autosomaal dominante CFTDM door SELENON-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)