770722002: Proximal myopathy with extrapyramidal signs (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of movement\Movement disorder\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Proximal myopathy\Proximal myopathy with extrapyramidal signs

\Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs

\Disorder of head\Encephalopathy\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs

\Muscle finding\Myopathy\Disorder of skeletal muscle\Proximal myopathy\Proximal myopathy with extrapyramidal signs

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Proximal myopathy with extrapyramidal signs

\Disorder of skeletal muscle\Proximal myopathy\Proximal myopathy with extrapyramidal signs

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Proximal myopathy with extrapyramidal signs
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Proximal myopathy with extrapyramidal signs
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Proximal myopathy with extrapyramidal signs
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Proximal myopathy with extrapyramidal signs
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Proximal myopathy with extrapyramidal signs
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Proximal myopathy with extrapyramidal signs
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Proximal myopathy with extrapyramidal signs
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Proximal myopathy\Proximal myopathy with extrapyramidal signs
\Disease\Myopathy\Disorder of skeletal muscle\Proximal myopathy\Proximal myopathy with extrapyramidal signs
\Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
\Disease\Movement disorder\Extrapyramidal disease\Proximal myopathy with extrapyramidal signs
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Proximal myopathy\Proximal myopathy with extrapyramidal signs

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

Descriptions:

Id Description Lang Type Status Case? Module

3702245015 Proximal myopathy with extrapyramidal signs en Synonym Active Case insensitive SNOMED CT core

3702246019 Proximal myopathy with extrapyramidal signs (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3702248018 A rare hereditary non-dystrophic myopathy with characteristics of proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported and include ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. There is evidence the disease is caused by homozygous mutation in the MICU1 gene on chromosome 10q22. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Proximal myopathy with extrapyramidal signs	Interprets	Movement	true	Inferred relationship	Some	3
Proximal myopathy with extrapyramidal signs	Finding site	Extrapyramidal system structure	true	Inferred relationship	Some	2
Proximal myopathy with extrapyramidal signs	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Proximal myopathy with extrapyramidal signs	Is a	Extrapyramidal disease	true	Inferred relationship	Some
Proximal myopathy with extrapyramidal signs	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Proximal myopathy with extrapyramidal signs	Is a	Proximal myopathy	true	Inferred relationship	Some
Proximal myopathy with extrapyramidal signs	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Proximal myopathy with extrapyramidal signs	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some

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
3702245015	Proximal myopathy with extrapyramidal signs	en	Synonym	Active	Case insensitive	SNOMED CT core
3702246019	Proximal myopathy with extrapyramidal signs (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3702248018	A rare hereditary non-dystrophic myopathy with characteristics of proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported and include ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. There is evidence the disease is caused by homozygous mutation in the MICU1 gene on chromosome 10q22.	en	Definition	Active	Case sensitive	SNOMED CT core