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718176005: Autosomal recessive limb girdle muscular dystrophy type 2C (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
3311380019 Autosomal recessive limb girdle muscular dystrophy type 2C (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311381015 Autosomal recessive limb girdle muscular dystrophy type 2C en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311382010 Limb girdle muscular dystrophy due to gamma-sarcoglycan deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311384011 Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy with manifestations of limb-girdle weakness, calf hypertrophy, diaphragmatic weakness and variable cardiac abnormalities. Ambulation may be lost by the age 12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3864971000052110 autosomalt recessiv muskeldystrofi typ 2C 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 2C (disorder) Is a Autosomal recessive muscular dystrophy with limb girdle distribution true Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2C (disorder) Associated morphology Dystrophy true Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2C (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2C (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2C (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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