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718177001: Autosomal recessive limb girdle muscular dystrophy type 2F (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
3311383017 Autosomal recessive limb girdle muscular dystrophy type 2F (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311385012 Autosomal recessive limb girdle muscular dystrophy type 2F en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311386013 Limb girdle muscular dystrophy due to delta-sarcoglycan deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311387016 Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a limb-girdle muscular dystrophy with manifestations of limb-girdle weakness, cardiomyopathy and respiratory impairment. LGMD2F is caused by a deficit of a sarcoglycan protein and therefore belongs to a group of disorders named sarcoglycanopathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3873841000052118 autosomalt recessiv muskeldystrofi typ 2F 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 2F (disorder) Is a Autosomal recessive muscular dystrophy with limb girdle distribution true Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2F (disorder) Associated morphology Dystrophy true Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2F (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2F (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2F (disorder) 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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