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240067001: Autosomal dominant 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
359666010 Autosomal dominant muscular dystrophy with limb girdle distribution en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
629159018 Autosomal dominant muscular dystrophy with limb girdle distribution (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
359666010 Autosomal dominant muscular dystrophy with limb girdle distribution en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
359666010 Autosomal dominant muscular dystrophy with limb girdle distribution en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
629159018 Autosomal dominant muscular dystrophy with limb girdle distribution (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
629159018 Autosomal dominant muscular dystrophy with limb girdle distribution (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5036411000241116 dystrophie musculaire autosomique dominante avec distribution de ceinture fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5036411000241116 dystrophie musculaire autosomique dominante avec distribution de ceinture fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

9 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant muscular dystrophy with limb girdle distribution Is a Congenital hereditary muscular dystrophy false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant muscular dystrophy with limb girdle distribution Is a Muscular dystrophy with predominantly proximal limb girdle distribution true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant muscular dystrophy with limb girdle distribution Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant muscular dystrophy with limb girdle distribution Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant muscular dystrophy with limb girdle distribution Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant muscular dystrophy with limb girdle distribution Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant muscular dystrophy with limb girdle distribution Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant muscular dystrophy with limb girdle distribution Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant muscular dystrophy with limb girdle distribution Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant muscular dystrophy with limb girdle distribution Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant muscular dystrophy with limb girdle distribution Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal dominant muscular dystrophy with gene located at 5q31 Is a True Autosomal dominant muscular dystrophy with limb girdle distribution Inferred relationship Existential restriction modifier (core metadata concept)
dystrophie musculaire des ceintures autosomique dominante type 1B Is a False Autosomal dominant muscular dystrophy with limb girdle distribution Inferred relationship Existential restriction modifier (core metadata concept)
A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed. Is a True Autosomal dominant muscular dystrophy with limb girdle distribution Inferred relationship Existential restriction modifier (core metadata concept)
dystrophie musculaire des ceintures autosomique dominante type 1C Is a False Autosomal dominant muscular dystrophy with limb girdle distribution Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant limb girdle muscular dystrophy type 1D Is a True Autosomal dominant muscular dystrophy with limb girdle distribution Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant limb girdle muscular dystrophy type 1E (disorder) Is a True Autosomal dominant muscular dystrophy with limb girdle distribution Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant limb girdle muscular dystrophy type 1F (disorder) Is a True Autosomal dominant muscular dystrophy with limb girdle distribution Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant limb girdle muscular dystrophy type 1G Is a True Autosomal dominant muscular dystrophy with limb girdle distribution Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant limb-girdle muscular dystrophy type 1H Is a True Autosomal dominant muscular dystrophy with limb girdle distribution Inferred relationship Existential restriction modifier (core metadata concept)
Calpain-3-related limb girdle muscular dystrophy D4 Is a True Autosomal dominant muscular dystrophy with limb girdle distribution Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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