46804001: Severe X-linked myotubular myopathy (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy

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

\Hereditary disorder of musculoskeletal system\Severe X-linked myotubular myopathy

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe X-linked myotubular myopathy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe X-linked myotubular myopathy
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Severe X-linked myotubular myopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe X-linked myotubular myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Severe X-linked myotubular myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular 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\Myotubular myopathy\Severe X-linked myotubular myopathy
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy
\Disease\Developmental disorder\Developmental hereditary disorder\Severe X-linked myotubular myopathy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

494651015 X-linked centronuclear myopathy en Synonym Active Entire term case sensitive SNOMED CT core module

4637471015 Severe X-linked myotubular myopathy (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

4637472010 Severe X-linked myotubular myopathy en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe X-linked myotubular myopathy	Is a	Myotubular myopathy	true	Inferred relationship	Existential restriction modifier
Severe X-linked myotubular myopathy	Severity	Severe	false	Inferred relationship	Existential restriction modifier
Severe X-linked myotubular myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Severe X-linked myotubular myopathy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Severe X-linked myotubular myopathy	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Severe X-linked myotubular myopathy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Severe X-linked myotubular myopathy	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Severe X-linked myotubular myopathy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Severe X-linked myotubular myopathy	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Severe X-linked myotubular myopathy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Severe X-linked myotubular myopathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Severe X-linked myotubular myopathy	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Severe X-linked myotubular myopathy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Severe X-linked myotubular myopathy	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier
Severe X-linked myotubular myopathy	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Severe X-linked myotubular myopathy	Is a	Hereditary disorder of musculoskeletal system	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
494651015	X-linked centronuclear myopathy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4637471015	Severe X-linked myotubular myopathy (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
4637472010	Severe X-linked myotubular myopathy	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module