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1179297007: LIM zinc finger domain containing 2-related limb girdle muscular dystrophy (disorder)


Status: current, Primitive. Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4650610011 LIMS2-related limb girdle muscular dystrophy en Synonym Active Case sensitive SNOMED CT core
4650611010 Autosomal recessive limb girdle muscular dystrophy type 2W en Synonym Active Initial character case insensitive SNOMED CT core
4650612015 LIM zinc finger domain containing 2-related limb girdle muscular dystrophy en Synonym Active Case sensitive SNOMED CT core
4650613013 Limb girdle muscular dystrophy type 2W en Synonym Active Initial character case insensitive SNOMED CT core
4650614019 LIM zinc finger domain containing 2-related limb girdle muscular dystrophy (disorder) en Fully specified name Active Case sensitive SNOMED CT core
4650615018 A subtype of autosomal recessive limb girdle muscular dystrophy with characteristics of childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadriparesis, calf hypertrophy, triangular tongue and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
LIMS2-related limb girdle muscular dystrophy Is a Autosomal recessive muscular dystrophy with limb girdle distribution true Inferred relationship Some
LIMS2-related limb girdle muscular dystrophy Clinical course Progressive true Inferred relationship Some 2
LIMS2-related limb girdle muscular dystrophy Occurrence Childhood true Inferred relationship Some 1
LIMS2-related limb girdle muscular dystrophy Finding site Skeletal muscle structure true Inferred relationship Some 1
LIMS2-related limb girdle muscular dystrophy Associated morphology Dystrophy true Inferred relationship Some 1
LIMS2-related limb girdle muscular dystrophy Pathological process Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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