783148005: Distal nebulin myopathy (disorder)

\Disease\Genetic disease\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Myopathy\Degenerative disorder of muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Myopathy\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Myopathy\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Myopathy\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Developmental disorder\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal nebulin myopathy
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal nebulin myopathy

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3757840016 Distal nebulin myopathy en Synonym Active Case insensitive SNOMED CT core

3757841017 Nebulin-related early-onset distal myopathy en Synonym Active Case insensitive SNOMED CT core

3757843019 Distal nebulin myopathy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3757842012 A rare slowly progressive autosomal recessive distal myopathy with characteristics of early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods. The disease manifests initially in early childhood or young adulthood by foot drop but the first symptoms can be seen as early as one year of age. Caused by biallelic mutations (with at least one of them being missense mutation) in the gene NEB (2q22) which encodes the protein nebulin. The latter is expressed in the thin filaments of striated muscle and is required for the proper assembly of the thin filaments, for the maintenance of their lengths and for their contractile function. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal nebulin myopathy	Is a	Distal muscular dystrophy	true	Inferred relationship	Some
Distal nebulin myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Distal nebulin myopathy	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Distal nebulin myopathy	Clinical course	Progressive	true	Inferred relationship	Some	1
Distal nebulin myopathy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3757840016	Distal nebulin myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3757841017	Nebulin-related early-onset distal myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3757843019	Distal nebulin myopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3757842012	A rare slowly progressive autosomal recessive distal myopathy with characteristics of early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods. The disease manifests initially in early childhood or young adulthood by foot drop but the first symptoms can be seen as early as one year of age. Caused by biallelic mutations (with at least one of them being missense mutation) in the gene NEB (2q22) which encodes the protein nebulin. The latter is expressed in the thin filaments of striated muscle and is required for the proper assembly of the thin filaments, for the maintenance of their lengths and for their contractile function. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core