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771334000: dystrophie musculaire des ceintures autosomique dominante type 1H (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3705802011 Autosomal dominant limb-girdle muscular dystrophy type 1H en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3705803018 Autosomal dominant limb-girdle muscular dystrophy type 1H (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
770581000241112 dystrophie musculaire des ceintures autosomique dominante type 1H (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
959101000172117 LGMD1H - limb-girdle muscular dystrophy type 1H fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
974511000172114 dystrophie musculaire des ceintures autosomique dominante type 1H fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3705804012 A subtype of autosomal dominant limb-girdle muscular dystrophy with characteristics of slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle. 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 dominant limb-girdle muscular dystrophy type 1H Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal dominant limb-girdle muscular dystrophy type 1H évolution clinique (attribut) progressif true Inferred relationship Some 2
Autosomal dominant limb-girdle muscular dystrophy type 1H morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 1
Autosomal dominant limb-girdle muscular dystrophy type 1H est un(e) (attribut) Autosomal dominant muscular dystrophy with limb girdle distribution true Inferred relationship Some
Autosomal dominant limb-girdle muscular dystrophy type 1H 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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