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240054004: Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
359650013 Autosomal recessive muscular dystrophy with limb girdle distribution en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
629144012 Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


30 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive muscular dystrophy with limb girdle distribution Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal recessive muscular dystrophy with limb girdle distribution évolution clinique (attribut) progressif true Inferred relationship Some 2
Autosomal recessive muscular dystrophy with limb girdle distribution morphologie associée (attribut) Dystrophy (morphologic abnormality) false Inferred relationship Some 1
Autosomal recessive muscular dystrophy with limb girdle distribution morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 1
Autosomal recessive muscular dystrophy with limb girdle distribution localisation d'une constatation (attribut) structure de muscle squelettique true Inferred relationship Some 1
Autosomal recessive muscular dystrophy with limb girdle distribution localisation d'une constatation (attribut) structure de muscle squelettique false Inferred relationship Some 1
Autosomal recessive muscular dystrophy with limb girdle distribution est un(e) (attribut) Muscular dystrophy with predominantly proximal limb girdle distribution true Inferred relationship Some
Autosomal recessive muscular dystrophy with limb girdle distribution est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive muscular dystrophy with limb girdle distribution est un(e) (attribut) Hereditary disorder of musculoskeletal system false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive limb girdle muscular dystrophy type 2U est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Reunion-Indiana Amish type muscular dystrophy est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
POGLUT1-related limb girdle muscular dystrophy R21 est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
LIMS2-related limb girdle muscular dystrophy est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Limb girdle muscular dystrophy due to POMK deficiency est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive muscular dystrophy with gene located at 15q est un(e) (attribut) False Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Congenital muscular dystrophy est un(e) (attribut) False Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Hutterite type of muscular dystrophy est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Adult onset autosomal recessive muscular dystrophy with normal dystrophin est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2D (disorder) est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2A (disorder) est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2C (disorder) est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2F (disorder) est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
dystrophie musculaire des ceintures autosomique dominante type 1B est un(e) (attribut) False Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2B (disorder) est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2E (disorder) est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
dystrophie musculaire des ceintures autosomique récessive type 2G est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2K (disorder) est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Epidermolysis bullosa simplex with muscular dystrophy (disorder) est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2J (disorder) est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2O (disorder) est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
dystrophie musculaire des ceintures autosomique récessive type 2Y est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2P (disorder) est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2Q (disorder) est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2L (disorder) est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
dystrophie musculaire des ceintures autosomique récessive type 2N est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2M (disorder) est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2S (disorder) est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2T (disorder) est un(e) (attribut) True Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal recessive limb girdle muscular dystrophy type 2R (disorder) est un(e) (attribut) False Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some
Severe childhood autosomal recessive muscular dystrophy est un(e) (attribut) False Autosomal recessive muscular dystrophy with limb girdle distribution Inferred relationship Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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