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1202023003: Congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)


Status: current, Not 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
4946203014 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
4946204015 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
4946205019 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
4946206018 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
4946207010 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
4946220013 A rare genetic 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
4946221012 A rare genetic 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
4946203014 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
4946204015 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
4946205019 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
4946206018 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
4946207010 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
4946220013 A rare genetic 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
4946221012 A rare genetic 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


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital fiber-type disproportion myopathy due to SELENON mutation Is a Congenital myopathy with fibre type disproportion true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fiber-type disproportion myopathy due to SELENON mutation Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fiber-type disproportion myopathy due to SELENON mutation Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fiber-type disproportion myopathy due to SELENON mutation Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fiber-type disproportion myopathy due to SELENON mutation Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation Is a True Congenital fiber-type disproportion myopathy due to SELENON mutation Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Congenital fiber-type disproportion myopathy due to SELENON mutation Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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