237984008: Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Neurogenic muscle weakness, ataxia and retinitis pigmentosa

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Neurogenic muscle weakness, ataxia and retinitis pigmentosa

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Neurogenic muscle weakness, ataxia and retinitis pigmentosa

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

356686010 Neurogenic muscle weakness, ataxia and retinitis pigmentosa en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356687018 NARP - Neurogenic muscle weakness, ataxia and retinitis pigmentosa en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

626798015 Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

11398601000172115 syndrome NARP (neuropathie, ataxie et rétinite pigmentaire) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

11398611000172117 syndrome de faiblesse musculaire neuropathique, ataxie et rétinite pigmentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4351871000172118 neurogene spierzwakte, ataxie en retinitis pigmentosa nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neurogenic muscle weakness, ataxia and retinitis pigmentosa	Is a	Disorder of pyruvate metabolism and mitochondrial respiratory chain	true	Inferred relationship	Some
Neurogenic muscle weakness, ataxia and retinitis pigmentosa	Occurrence	Congenital	true	Inferred relationship	Some	1
Neurogenic muscle weakness, ataxia and retinitis pigmentosa	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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Reference Sets

Description inactivation indicator reference set