783166000: Distal anoctaminopathy (disorder)

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3757920010 Miyoshi muscular dystrophy type 3 en Synonym Active Case sensitive SNOMED CT core

3757921014 Distal anoctaminopathy en Synonym Active Case insensitive SNOMED CT core

3757922019 Distal anoctaminopathy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3757923012 MMD3 - Miyoshi muscular dystrophy type 3 en Synonym Active Case sensitive SNOMED CT core

3757924018 A rare autosomal recessive distal myopathy with characteristics of early adult-onset slowly progressive often asymmetrical lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels. Age at onset ranges from 20 to 50 years. Clinical manifestations can be mild or subjectively nonexistent in spite of presenting clear changes on muscle imaging. Caused by loss of function mutations in the gene ANO5 (11p14.3) which encodes a protein highly expressed in skeletal and cardiac muscle, as well as bone. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal anoctaminopathy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Distal anoctaminopathy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Distal anoctaminopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Distal anoctaminopathy	Is a	Distal muscular dystrophy	true	Inferred relationship	Some
Distal anoctaminopathy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Distal anoctaminopathy	Clinical course	Progressive	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
3757920010	Miyoshi muscular dystrophy type 3	en	Synonym	Active	Case sensitive	SNOMED CT core
3757921014	Distal anoctaminopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3757922019	Distal anoctaminopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3757923012	MMD3 - Miyoshi muscular dystrophy type 3	en	Synonym	Active	Case sensitive	SNOMED CT core
3757924018	A rare autosomal recessive distal myopathy with characteristics of early adult-onset slowly progressive often asymmetrical lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels. Age at onset ranges from 20 to 50 years. Clinical manifestations can be mild or subjectively nonexistent in spite of presenting clear changes on muscle imaging. Caused by loss of function mutations in the gene ANO5 (11p14.3) which encodes a protein highly expressed in skeletal and cardiac muscle, as well as bone.	en	Definition	Active	Case sensitive	SNOMED CT core