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718179003: Autosomal recessive limb girdle muscular dystrophy type 2B (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3311392019 Autosomal recessive limb girdle muscular dystrophy type 2B (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311393012 Autosomal recessive limb girdle muscular dystrophy type 2B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311394018 Limb girdle muscular dystrophy due to dysferlin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311395017 Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy with characteristics of limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3855561000052118 autosomalt recessiv muskeldystrofi typ 2B i skulder-bäckengördel sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive limb girdle muscular dystrophy type 2B (disorder) Is a Autosomal recessive muscular dystrophy with limb girdle distribution true Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2B (disorder) Associated morphology Dystrophy true Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2B (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2B (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2B (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

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