719815005: X-linked myopathy with excessive autophagy (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\X-linked myopathy with excessive autophagy

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\X-linked myopathy with excessive autophagy

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

\Hereditary disorder of musculoskeletal system\X-linked myopathy with excessive autophagy

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\X-linked myopathy with excessive autophagy

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\X-linked myopathy with excessive autophagy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked myopathy with excessive autophagy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked myopathy with excessive autophagy
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked myopathy with excessive autophagy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked myopathy with excessive autophagy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked myopathy with excessive autophagy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\X-linked myopathy with excessive autophagy
\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\X-linked myopathy with excessive autophagy
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\X-linked myopathy with excessive autophagy
\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\X-linked myopathy with excessive autophagy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\X-linked myopathy with excessive autophagy
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked myopathy with excessive autophagy
\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\X-linked myopathy with excessive autophagy

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3318008013 X-linked myopathy with excessive autophagy (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3318009017 X-linked myopathy with excessive autophagy en Synonym Active Entire term case sensitive SNOMED CT core module

3318010010 Vacuolar myopathy en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked myopathy with excessive autophagy	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
X-linked myopathy with excessive autophagy	Is a	Myopathy with cytoplasmic inclusions	true	Inferred relationship	Existential restriction modifier
X-linked myopathy with excessive autophagy	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
X-linked myopathy with excessive autophagy	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
X-linked myopathy with excessive autophagy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
X-linked myopathy with excessive autophagy	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
X-linked myopathy with excessive autophagy	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
X-linked myopathy with excessive autophagy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
X-linked myopathy with excessive autophagy	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
X-linked myopathy with excessive autophagy	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3318008013	X-linked myopathy with excessive autophagy (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3318009017	X-linked myopathy with excessive autophagy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3318010010	Vacuolar myopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module