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718180000: dystrophie musculaire des ceintures autosomique récessive type 2I (trouble)


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
3311396016 Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311397013 Autosomal recessive limb girdle muscular dystrophy type 2I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311398015 Limb girdle muscular dystrophy due to deficiency of fukutin related protein en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
752101000241111 dystrophie musculaire des ceintures autosomique récessive type 2I (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
890501000172116 dystrophie musculaire des ceintures par déficit en FKRP fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
940541000172116 dystrophie musculaire des ceintures autosomique récessive type 2I fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3311399011 Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy with characteristics of proximal limb girdle weakness predominant in the legs together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. 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
Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 2
Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) est un(e) (attribut) Autosomal recessive muscular dystrophy with limb girdle distribution true Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) localisation d'une constatation (attribut) structure de muscle squelettique 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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