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726618007: Autosomal recessive limb girdle muscular dystrophy type 2M (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3451016013 Autosomal recessive limb girdle muscular dystrophy type 2M (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3451017016 Autosomal recessive limb girdle muscular dystrophy type 2M en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3451018014 A form of limb-girdle muscular dystrophy with characteristics of an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4001681000052119 autosomalt recessiv muskeldystrofi i skulder-bäckengördel, typ 2M 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 2M (disorder) Is a Autosomal recessive muscular dystrophy with limb girdle distribution true Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2M (disorder) Associated morphology Dystrophy true Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2M (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2M (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2M (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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