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1179295004: Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4650594010 Autosomal recessive limb girdle muscular dystrophy, cardiac arrhythmia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4650596012 Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4650597015 Limb girdle muscular dystrophy 2X en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4650600019 BVES-related limb girdle muscular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4650601015 Blood vessel epicardial substance related limb girdle muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4650602010 BVES (blood vessel epicardial substance) related limb girdle muscular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399484015 A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399485019 A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterised by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibres. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4650594010 Autosomal recessive limb girdle muscular dystrophy, cardiac arrhythmia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4650596012 Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4650597015 Limb girdle muscular dystrophy 2X en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4650600019 BVES-related limb girdle muscular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4650601015 Blood vessel epicardial substance related limb girdle muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4650602010 BVES (blood vessel epicardial substance) related limb girdle muscular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4650595011 A rare subtype of autosomal recessive limb girdle muscular dystrophy characterised by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei and presence of necrotic and regenerating fibres. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4650599017 A rare subtype of autosomal recessive limb girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei and presence of necrotic and regenerating fibers. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399484015 A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399485019 A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterised by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibres. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3393521001000112 Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2X de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5779301000241119 syndrome autosomique récessif de dystrophie musculaire des ceintures et d'arythmie cardiaque fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5779321000241112 dystrophie musculaire des ceintures associée à BVES (blood vessel epicardial substance) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5779341000241116 dystrophie musculaire de la ceinture d'un membre associée à une substance épicardique présente dans un vaisseau sanguin fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5779301000241119 syndrome autosomique récessif de dystrophie musculaire des ceintures et d'arythmie cardiaque fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5779321000241112 dystrophie musculaire des ceintures associée à BVES (blood vessel epicardial substance) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5779341000241116 dystrophie musculaire de la ceinture d'un membre associée à une substance épicardique présente dans un vaisseau sanguin fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393521001000112 Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2X de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
BVES-related limb girdle muscular dystrophy Is a Chronic heart disease true Inferred relationship Existential restriction modifier (core metadata concept)
BVES-related limb girdle muscular dystrophy Is a Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
BVES-related limb girdle muscular dystrophy Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
BVES-related limb girdle muscular dystrophy Is a A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. true Inferred relationship Existential restriction modifier (core metadata concept)
BVES-related limb girdle muscular dystrophy Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
BVES-related limb girdle muscular dystrophy Finding site Heart structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
BVES-related limb girdle muscular dystrophy Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
BVES-related limb girdle muscular dystrophy Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
BVES-related limb girdle muscular dystrophy Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
BVES-related limb girdle muscular dystrophy Finding site Cardiac conducting system structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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