770627003: Desmin-related myofibrillar myopathy (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...

\Myofibrillar myopathy\Desmin-related myofibrillar myopathy

\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\...

\Myofibrillar myopathy\Desmin-related myofibrillar myopathy

\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Desmin-related myofibrillar myopathy

\Disorder of skeletal muscle\Myofibrillar myopathy\Desmin-related myofibrillar myopathy
\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Desmin-related myofibrillar myopathy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Desmin-related myofibrillar myopathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Desmin-related myofibrillar myopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Desmin-related myofibrillar myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Desmin-related myofibrillar myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myofibrillar myopathy\Desmin-related myofibrillar myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Myofibrillar myopathy\Desmin-related myofibrillar myopathy
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Desmin-related myofibrillar myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy
\Disease\Developmental disorder\Developmental hereditary disorder\Desmin-related myofibrillar myopathy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Desmin-related myofibrillar myopathy

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3701691015 Desmin-related myofibrillar myopathy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3701692010 Desminopathy en Synonym Active Entire term case insensitive SNOMED CT core module

3701693017 Desmin-related myofibrillar myopathy en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Desmin-related myofibrillar myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Desmin-related myofibrillar myopathy	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Desmin-related myofibrillar myopathy	Is a	Myofibrillar myopathy	true	Inferred relationship	Existential restriction modifier
Desmin-related myofibrillar myopathy	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Desmin-related myofibrillar myopathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Desmin-related myofibrillar myopathy	Is a	Myopathy with cytoplasmic inclusions	true	Inferred relationship	Existential restriction modifier
Desmin-related myofibrillar myopathy	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Desmin-related myofibrillar myopathy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Desmin-related myofibrillar myopathy	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3701691015	Desmin-related myofibrillar myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3701692010	Desminopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3701693017	Desmin-related myofibrillar myopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module