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129621001: Nemaline myopathy, early onset type (disorder)


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
208442014 Nemaline myopathy, early onset type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
733777019 Nemaline myopathy, early onset type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4695183010 Congenital nemaline myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
208442014 Nemaline myopathy, early onset type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
208442014 Nemaline myopathy, early onset type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
733777019 Nemaline myopathy, early onset type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
733777019 Nemaline myopathy, early onset type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4695183010 Congenital nemaline myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4790781000241115 myopathie à némaline à début précoce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4790781000241115 myopathie à némaline à début précoce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


5 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Nemaline myopathy, early onset type Is a Nemaline myopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Nemaline myopathy, early onset type Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Nemaline myopathy, early onset type Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Nemaline myopathy, early onset type Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Nemaline myopathy, early onset type Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Nemaline myopathy, early onset type Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Nemaline myopathy, early onset type Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Nemaline myopathy, early onset type Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Nemaline myopathy, early onset type Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Nemaline myopathy, early onset type Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Nemaline myopathy, early onset type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Nemaline myopathy, early onset type Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Nemaline myopathy, early onset type Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Typical nemaline myopathy Is a True Nemaline myopathy, early onset type Inferred relationship Existential restriction modifier (core metadata concept)
Actin accumulation myopathy (disorder) Is a True Nemaline myopathy, early onset type Inferred relationship Existential restriction modifier (core metadata concept)
Intermediate nemaline myopathy Is a True Nemaline myopathy, early onset type Inferred relationship Existential restriction modifier (core metadata concept)
Severe congenital nemaline myopathy Is a True Nemaline myopathy, early onset type Inferred relationship Existential restriction modifier (core metadata concept)
Amish nemaline myopathy (disorder) Is a True Nemaline myopathy, early onset type Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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