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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4650611010 Autosomal recessive limb girdle muscular dystrophy type 2W en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4650612015 LIM zinc finger domain containing 2-related limb girdle muscular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4650613013 Limb girdle muscular dystrophy type 2W en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4650614019 LIM zinc finger domain containing 2-related limb girdle muscular dystrophy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
LIMS2-related limb girdle muscular dystrophy est un(e) (attribut) Autosomal recessive muscular dystrophy with limb girdle distribution true Inferred relationship Some
LIMS2-related limb girdle muscular dystrophy évolution clinique (attribut) progressif true Inferred relationship Some 2
LIMS2-related limb girdle muscular dystrophy survenue (attribut) enfance true Inferred relationship Some 1
LIMS2-related limb girdle muscular dystrophy localisation d'une constatation (attribut) structure de muscle squelettique true Inferred relationship Some 1
LIMS2-related limb girdle muscular dystrophy morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 1
LIMS2-related limb girdle muscular dystrophy Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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