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765197008: symptomatische vorm van dystrofinopathie bij draagster (aandoening)


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
6148891000146117 symptomatische vorm van spierdystrofie van Duchenne en Becker bij draagster nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6148901000146116 symptomatische vorm van dystrofinopathie bij draagster (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6148911000146119 symptomatische vorm van dystrofinopathie bij draagster nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6148921000146112 symptomatische vorm van ziekte van Duchenne en Becker bij draagster nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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 gebrekkige ontwikkeling (afwijkende morfologie) 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
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier Clinical course Progressive (qualifier value) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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