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240047005: X-gebonden 'limb-girdle'-spierdystrofie (aandoening)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
359641011 X-linked muscular dystrophy with limb girdle distribution en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
629137015 X-linked muscular dystrophy with limb girdle distribution (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
731131000146112 X-LGMD nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
731141000146116 X-linked limb-girdle muscular dystrophy nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7974881000146110 X-gebonden 'limb-girdle'-spierdystrofie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7974891000146112 X-gebonden 'limb-girdle'-spierdystrofie (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


8 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked muscular dystrophy with limb girdle distribution Is a Muscular dystrophy with predominantly proximal limb girdle distribution true Inferred relationship Some
X-linked muscular dystrophy with limb girdle distribution Is a Congenital hereditary muscular dystrophy true Inferred relationship Some
X-linked muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 2
X-linked muscular dystrophy with limb girdle distribution Occurrence Congenital false Inferred relationship Some
X-linked muscular dystrophy with limb girdle distribution Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 2
X-linked muscular dystrophy with limb girdle distribution Associated morphology Dystrophy true Inferred relationship Some 1
X-linked muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 1
X-linked muscular dystrophy with limb girdle distribution Is a 'limb-girdle'-spierdystrofie (aandoening) false Inferred relationship Some
X-linked muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 1
X-linked muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 2
X-linked muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 1
X-linked muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 2
X-linked muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 1
X-linked muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 2
X-linked muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 1
X-linked muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 2
X-linked muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure true Inferred relationship Some 1
X-linked muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 2
X-linked muscular dystrophy with limb girdle distribution Occurrence Congenital false Inferred relationship Some 3
X-linked muscular dystrophy with limb girdle distribution Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 3
X-linked muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 3
X-linked muscular dystrophy with limb girdle distribution Occurrence Congenital false Inferred relationship Some 2
X-linked muscular dystrophy with limb girdle distribution Is a X-linked hereditary disease true Inferred relationship Some
X-linked muscular dystrophy with limb girdle distribution Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
X-linked muscular dystrophy with limb girdle distribution Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
X-linked muscular dystrophy with limb girdle distribution Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
X-linked muscular dystrophy with limb girdle distribution Occurrence Congenital true Inferred relationship Some 1
X-linked muscular dystrophy with limb girdle distribution Clinical course Progressive (qualifier value) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked muscular dystrophy with abnormal dystrophin Is a True X-linked muscular dystrophy with limb girdle distribution Inferred relationship Some
X-linked limb girdle muscular dystrophy with normal dystrophin Is a True X-linked muscular dystrophy with limb girdle distribution Inferred relationship Some

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

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