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726615005: dystrophie musculaire des ceintures autosomique récessive type 2Q (trouble)


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
3450992015 Autosomal recessive limb girdle muscular dystrophy type 2Q (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3450993013 Autosomal recessive limb girdle muscular dystrophy type 2Q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
762171000241112 dystrophie musculaire des ceintures autosomique récessive type 2Q (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
901721000172118 LGMD2Q - limb-girdle muscular dystrophy type 2Q fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
971581000172119 dystrophie musculaire des ceintures autosomique récessive type 2Q fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3450994019 A form of limb-girdle muscular dystrophy with characteristics of proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases. 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 2Q (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2Q (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 2
Autosomal recessive limb girdle muscular dystrophy type 2Q (disorder) est un(e) (attribut) Autosomal recessive muscular dystrophy with limb girdle distribution true Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2Q (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2Q (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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