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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
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 (disorder) false Inferred relationship Some
Autosomal dominant muscular dystrophy with limb girdle distribution Is a Muscular dystrophy with predominantly proximal limb girdle distribution true Inferred relationship Some
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 2
Autosomal dominant muscular dystrophy with limb girdle distribution Occurrence Congenital false Inferred relationship Some
Autosomal dominant muscular dystrophy with limb girdle distribution Associated morphology anomalie congénitale false Inferred relationship Some 2
Autosomal dominant muscular dystrophy with limb girdle distribution Associated morphology Dystrophy true Inferred relationship Some 1
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 1
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 1
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 2
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 2
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 1
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 1
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 2
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 2
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 1
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure true Inferred relationship Some 1
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 2
Autosomal dominant muscular dystrophy with limb girdle distribution Occurrence Congenital false Inferred relationship Some 3
Autosomal dominant muscular dystrophy with limb girdle distribution Associated morphology anomalie du développement false Inferred relationship Some 3
Autosomal dominant muscular dystrophy with limb girdle distribution Finding site Skeletal muscle structure false Inferred relationship Some 3
Autosomal dominant muscular dystrophy with limb girdle distribution Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Autosomal dominant muscular dystrophy with limb girdle distribution Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Autosomal dominant muscular dystrophy with limb girdle distribution Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal dominant muscular dystrophy with limb girdle distribution Clinical course Progressive true Inferred relationship Some 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 Some
dystrophie musculaire des ceintures autosomique dominante type 1B Is a False Autosomal dominant muscular dystrophy with limb girdle distribution Inferred relationship Some
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 Some
dystrophie musculaire des ceintures autosomique dominante type 1C Is a False Autosomal dominant muscular dystrophy with limb girdle distribution Inferred relationship Some
A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. Is a True Autosomal dominant muscular dystrophy with limb girdle distribution Inferred relationship Some
A limb-girdle muscular dystrophy with characteristics of skeletal and cardiac myopathy with cardiac conduction defects and muscle cytoplasmic inclusions. Is a True Autosomal dominant muscular dystrophy with limb girdle distribution Inferred relationship Some
A rare subtype of autosomal dominant limb-girdle muscular dystrophy, with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed. Is a True Autosomal dominant muscular dystrophy with limb girdle distribution Inferred relationship Some
A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed. Is a True Autosomal dominant muscular dystrophy with limb girdle distribution Inferred relationship Some
Autosomal dominant limb-girdle muscular dystrophy type 1H Is a True Autosomal dominant muscular dystrophy with limb girdle distribution Inferred relationship Some
A rare autosomal dominant limb-girdle muscular dystrophy characterized by adult onset of proximal muscle weakness, pain, and wasting predominantly affecting the proximal leg, lumbar paraspinal, and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often, but not always, elevated, and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable, although most patients remain ambulatory. Is a True Autosomal dominant muscular dystrophy with limb girdle distribution Inferred relationship Some

This concept is not in any reference sets

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