75072002: Nemaline myopathy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy

\Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy
\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Nemaline myopathy

\Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Nemaline myopathy

\Disease\Genetic disease\Nemaline myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Nemaline myopathy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Nemaline myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy

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

Descriptions:

Id Description Lang Type Status Case? Module

124688012 Nemaline myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

124689016 Nemaline body disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

124690013 Rod myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

502903015 Rod-body myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

815641013 Nemaline myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Nemaline myopathy	Is a	Congenital myopathy	false	Inferred relationship	Some
Nemaline myopathy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Nemaline myopathy	Is a	Disorder of skeletal muscle	true	Inferred relationship	Some
Nemaline myopathy	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Nemaline myopathy	Occurrence	Congenital	false	Inferred relationship	Some
Nemaline myopathy	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Nemaline myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Nemaline myopathy	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Nemaline myopathy	Occurrence	Congenital	false	Inferred relationship	Some	2
Nemaline myopathy	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Nemaline myopathy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Nemaline myopathy	Occurrence	Congenital	false	Inferred relationship	Some	1
Nemaline myopathy	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Nemaline myopathy	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Nemaline myopathy	Is a	Genetic disease	true	Inferred relationship	Some
Nemaline myopathy	Is a	Muscle weakness	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Nemaline myopathy, early onset type	Is a	True	Nemaline myopathy	Inferred relationship	Some
Nemaline myopathy, late onset type	Is a	True	Nemaline myopathy	Inferred relationship	Some
Childhood-onset nemaline myopathy	Is a	True	Nemaline myopathy	Inferred relationship	Some

Reference Sets