1202025005: Autosomal recessive 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 recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)

\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 recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)

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

\Hereditary disorder of musculoskeletal system\Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)

\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 recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)

\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 recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)

\Disease\Genetic disease\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)
\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 recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)
\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 recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)
\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 recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)
\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 recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)
\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 recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)
\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 recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)

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

4946213018 Autosomal recessive 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

4946214012 Autosomal recessive 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

4946215013 Autosomal recessive 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

4946216014 Autosomal recessive 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

4946217017 Autosomal recessive 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

4946224016 A rare autosomal recessive 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

4946225015 A rare autosomal recessive 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

13655841000172118 autosomaal recessieve 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)

13655851000172116 autosomaal recessieve 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)

13655861000172119 autosomaal recessieve 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 recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)	Is a	Congenital fiber-type disproportion myopathy due to SELENON mutation	true	Inferred relationship	Some
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)	Is a	Autosomal recessive hereditary disorder	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
4946213018	Autosomal recessive 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
4946214012	Autosomal recessive 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
4946215013	Autosomal recessive 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
4946216014	Autosomal recessive 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
4946217017	Autosomal recessive 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
4946224016	A rare autosomal recessive 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
4946225015	A rare autosomal recessive 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
13655841000172118	autosomaal recessieve 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)
13655851000172116	autosomaal recessieve 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)
13655861000172119	autosomaal recessieve CFTDM door SELENON-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)