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765197008: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3657413013 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657415018 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5404509013 A rare, genetic muscular dystrophy affecting female carriers and characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404510015 A rare, genetic muscular dystrophy affecting female carriers and characterised by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3657413013 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657415018 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657414019 Disease with characteristics of variable degrees of muscle weakness due to progressive skeletal myopathy sometimes associated with dilated cardiomyopathy or left ventricle dilation. Duchenne and Becker muscular dystrophies primarily affect males and only a small percentage of female carriers have been reported to manifest these diseases. Symptomatic female carriers usually present later in life, muscle weakness is generally mild to moderate and is usually proximal and asymmetric, some patients present with cardiac manifestations alone. Females with clinical features are usually carriers of X-chromosome rearrangements, display skewed X-inactivation or have Turner syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404509013 A rare, genetic muscular dystrophy affecting female carriers and characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404510015 A rare, genetic muscular dystrophy affecting female carriers and characterised by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
881061000195110 Symptomatische Form der Muskeldystrophie Duchenne und Becker bei weiblichen Trägerinnen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
901791000172116 forme symptomatique de la dystrophie musculaire de Duchenne et Becker de la femme porteuse fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
901791000172116 forme symptomatique de la dystrophie musculaire de Duchenne et Becker de la femme porteuse fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
881061000195110 Symptomatische Form der Muskeldystrophie Duchenne und Becker bei weiblichen Trägerinnen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3407801001000119 Symptomatische Form der Muskeldystrophie Duchenne und Becker in weiblichen Trägerinnen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare, genetic muscular dystrophy affecting female carriers and characterised by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, genetic muscular dystrophy affecting female carriers and characterised by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, genetic muscular dystrophy affecting female carriers and characterised by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, genetic muscular dystrophy affecting female carriers and characterised by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. Is a Manifesting female carrier of X-linked muscular dystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic muscular dystrophy affecting female carriers and characterised by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare, genetic muscular dystrophy affecting female carriers and characterised by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare, genetic muscular dystrophy affecting female carriers and characterised by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare, genetic muscular dystrophy affecting female carriers and characterised by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, genetic muscular dystrophy affecting female carriers and characterised by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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