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

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\...

\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\BVES-related limb girdle muscular dystrophy

\Chronic heart disease\BVES-related limb girdle muscular dystrophy

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\BVES-related limb girdle muscular dystrophy
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Chronic heart disease\BVES-related limb girdle muscular dystrophy
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\BVES-related limb girdle muscular dystrophy
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Chronic heart disease\BVES-related limb girdle muscular dystrophy
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\BVES-related limb girdle muscular dystrophy
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Chronic heart disease\BVES-related limb girdle muscular dystrophy
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\BVES-related limb girdle muscular dystrophy
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Chronic heart disease\BVES-related limb girdle muscular dystrophy
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\BVES-related limb girdle muscular dystrophy
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Chronic heart disease\BVES-related limb girdle muscular dystrophy

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy

\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\BVES-related limb girdle muscular dystrophy
\Cardiovascular finding\Cardiac finding\Heart disease\Chronic heart disease\BVES-related limb girdle muscular dystrophy
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\BVES-related limb girdle muscular dystrophy
\Cardiovascular finding\Cardiovascular disease\Chronic disease of cardiovascular system\Chronic heart disease\BVES-related limb girdle muscular dystrophy
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\BVES-related limb girdle muscular dystrophy
\Cardiovascular finding\Cardiovascular disease\Heart disease\Chronic heart disease\BVES-related limb girdle muscular dystrophy

\Muscle finding\Myopathy\...

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy

\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy

\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy

\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\BVES-related limb girdle muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\BVES-related limb girdle muscular dystrophy
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\BVES-related limb girdle muscular dystrophy
\Disease\Disorder of body system\Cardiovascular disease\Chronic disease of cardiovascular system\Chronic heart disease\BVES-related limb girdle muscular dystrophy
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\BVES-related limb girdle muscular dystrophy
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Chronic heart disease\BVES-related limb girdle muscular dystrophy
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\BVES-related limb girdle muscular dystrophy
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Chronic heart disease\BVES-related limb girdle muscular dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy
\Disease\Myopathy\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy
\Disease\Myopathy\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\BVES-related limb girdle muscular dystrophy
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Chronic heart disease\BVES-related limb girdle muscular dystrophy
\Disease\Chronic disease\Chronic disease of cardiovascular system\Chronic heart disease\BVES-related limb girdle muscular dystrophy
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\BVES-related limb girdle muscular dystrophy

Status: current, Primitive. 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 Active Case insensitive SNOMED CT core

4650596012 Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4650597015 Limb girdle muscular dystrophy 2X en Synonym Active Initial character case insensitive SNOMED CT core

4650600019 BVES-related limb girdle muscular dystrophy en Synonym Active Case sensitive SNOMED CT core

4650601015 Blood vessel epicardial substance related limb girdle muscular dystrophy en Synonym Active Case insensitive SNOMED CT core

4650602010 BVES (blood vessel epicardial substance) related limb girdle muscular dystrophy en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

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	Some
BVES-related limb girdle muscular dystrophy	Is a	Autosomal recessive muscular dystrophy with limb girdle distribution	true	Inferred relationship	Some
BVES-related limb girdle muscular dystrophy	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
BVES-related limb girdle muscular dystrophy	Is a	Cardiac arrhythmia associated with genetic disorder	true	Inferred relationship	Some
BVES-related limb girdle muscular dystrophy	Clinical course	Progressive	true	Inferred relationship	Some	2
BVES-related limb girdle muscular dystrophy	Finding site	Structure of heart	true	Inferred relationship	Some	3
BVES-related limb girdle muscular dystrophy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
BVES-related limb girdle muscular dystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
BVES-related limb girdle muscular dystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4650594010	Autosomal recessive limb girdle muscular dystrophy, cardiac arrhythmia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4650596012	Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4650597015	Limb girdle muscular dystrophy 2X	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4650600019	BVES-related limb girdle muscular dystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
4650601015	Blood vessel epicardial substance related limb girdle muscular dystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
4650602010	BVES (blood vessel epicardial substance) related limb girdle muscular dystrophy	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core