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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
359650013 Autosomal recessive muscular dystrophy with limb girdle distribution en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
5036251000241116 dystrophie musculaire récessive autosomique de la ceinture fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5036251000241116 dystrophie musculaire récessive autosomique de la ceinture fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

32 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Is a Muscular dystrophy with predominantly proximal limb girdle distribution true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Associated morphology Dystrophy false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive muscular dystrophy with gene located at 15q Is a False Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital muscular dystrophy Is a False Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hutterite type of muscular dystrophy (disorder) Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Adult onset autosomal recessive muscular dystrophy with normal dystrophin Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe childhood autosomal recessive muscular dystrophy Is a False Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive limb girdle muscular dystrophy type 2D (disorder) Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive limb girdle muscular dystrophy type 2A (disorder) Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive limb girdle muscular dystrophy type 2C (disorder) Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive limb girdle muscular dystrophy type 2F Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
dystrophie musculaire des ceintures autosomique dominante type 1B Is a False Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed. Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive limb girdle muscular dystrophy type 2E (disorder) Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive limb girdle muscular dystrophy type 2G (disorder) Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive limb girdle muscular dystrophy type 2K (disorder) Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex with muscular dystrophy Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive limb girdle muscular dystrophy type 2J (disorder) Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive limb girdle muscular dystrophy type 2O (disorder) Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder) Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive limb girdle muscular dystrophy type 2P (disorder) Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive limb girdle muscular dystrophy type 2Q (disorder) Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive limb girdle muscular dystrophy type 2L Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A form of limb-girdle muscular dystrophy characterised by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability). Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive limb girdle muscular dystrophy type 2M (disorder) Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive limb girdle muscular dystrophy type 2S (disorder) Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive limb girdle muscular dystrophy type 2T (disorder) Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
dystrophie musculaire des ceintures autosomique récessive type 2R Is a False Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive limb girdle muscular dystrophy type 2U Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Reunion-Indiana Amish type muscular dystrophy Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
POGLUT1-related limb girdle muscular dystrophy R21 Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
BVES-related limb girdle muscular dystrophy Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
LIMS2-related limb girdle muscular dystrophy Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Limb girdle muscular dystrophy due to POMK deficiency Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder) Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
POMGNT2-related limb girdle muscular dystrophy R24 Is a True Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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