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

Id Description Lang Type Status Case? Module

3657413013 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier en Synonym Active Initial character case insensitive SNOMED CT core

3657415018 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier (disorder) en Fully specified name Active Initial character case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier	Clinical course	Progressive	true	Inferred relationship	Some	2
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier	Occurrence	Congenital	true	Inferred relationship	Some	1
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier	Is a	Manifesting female carrier of X-linked muscular dystrophy	true	Inferred relationship	Some
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier	Occurrence	Congenital	false	Inferred relationship	Some	2
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3657413013	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3657415018	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier (disorder)	en	Fully specified name	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core