719986000: autosomaal dominante 'limb-girdle'-spierdystrofie type 1C (aandoening)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3318720013 Autosomal dominant limb girdle muscular dystrophy type 1C (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3318721012 Autosomal dominant limb girdle muscular dystrophy type 1C en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3318722017 Limb girdle muscular dystrophy due to caveolin-3 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3318723010 Limb-girdle muscular dystrophy 1C caveolin myopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6699271000146118 LGMD1C nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7880261000146114 autosomaal dominante 'limb-girdle'-spierdystrofie type 1C nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7880271000146115 autosomaal dominante 'limb-girdle'-spierdystrofie type 1C (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7880281000146118 'limb-girdle muscular dystrophy' door caveoline-3-deficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7880291000146116 autosomaal dominante gordeldystrofie type 1C nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3318724016 A limb girdle muscular dystrophy caused by caveolin-3 deficiency with characteristics of weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
autosomaal dominante 'limb-girdle'-spierdystrofie type 1C	Is a	Autosomal dominant muscular dystrophy with limb girdle distribution	false	Inferred relationship	Some
autosomaal dominante 'limb-girdle'-spierdystrofie type 1C	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
autosomaal dominante 'limb-girdle'-spierdystrofie type 1C	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
autosomaal dominante 'limb-girdle'-spierdystrofie type 1C	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
autosomaal dominante 'limb-girdle'-spierdystrofie type 1C	Occurrence	Congenital	false	Inferred relationship	Some	2
autosomaal dominante 'limb-girdle'-spierdystrofie type 1C	Associated morphology	Dystrophy	false	Inferred relationship	Some	3
autosomaal dominante 'limb-girdle'-spierdystrofie type 1C	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
autosomaal dominante 'limb-girdle'-spierdystrofie type 1C	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
autosomaal dominante 'limb-girdle'-spierdystrofie type 1C	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
autosomaal dominante 'limb-girdle'-spierdystrofie type 1C	Clinical course	Progressive (qualifier value)	false	Inferred relationship	Some	2

Inbound Relationships

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Characteristic

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Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)