719986000: Autosomal dominant limb girdle muscular dystrophy type 1C (disorder)

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
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
967501000172111 dystrophie musculaire des ceintures autosomique dominante type 1C fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
990361000172117 dystrophie musculaire des ceintures par déficit en cavéoline-3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
872051000172117 autosomaal dominante limb-girdle-spierdystrofie type 1C nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
946271000172113 autosomaal dominante bekken- en schoudergordel-spierdystrofie type 1C nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
dystrophie musculaire des ceintures autosomique dominante type 1C	Is a	Autosomal dominant muscular dystrophy with limb girdle distribution	false	Inferred relationship	Some
dystrophie musculaire des ceintures autosomique dominante type 1C	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
dystrophie musculaire des ceintures autosomique dominante type 1C	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	3
dystrophie musculaire des ceintures autosomique dominante type 1C	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
dystrophie musculaire des ceintures autosomique dominante type 1C	Occurrence	Congenital	false	Inferred relationship	Some	2
dystrophie musculaire des ceintures autosomique dominante type 1C	Associated morphology	Dystrophy	false	Inferred relationship	Some	3
dystrophie musculaire des ceintures autosomique dominante type 1C	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
dystrophie musculaire des ceintures autosomique dominante type 1C	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
dystrophie musculaire des ceintures autosomique dominante type 1C	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
dystrophie musculaire des ceintures autosomique dominante type 1C	Clinical course	Progressive (qualifier value)	false	Inferred relationship	Some	2

Inbound Relationships

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Active

Source

Characteristic

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Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)