709415008: neurodegeneratie geassocieerd met eiwit van mitochondriaal membraan (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Mitochondrial membrane protein associated neurodegeneration (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial membrane protein associated neurodegeneration (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Mitochondrial membrane protein associated neurodegeneration (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Mitochondrial membrane protein associated neurodegeneration (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3039919013 Mitochondrial membrane protein associated neurodegeneration (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3040079012 Mitochondrial membrane protein associated neurodegeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3078351015 Neurodegeneration with brain iron accumulation 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3078599019 Mitochondrial protein associated neurodegeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6436131000146111 neurodegeneratie met ijzerstapeling in hersenen type 4 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7741071000146112 MPAN nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7746131000146117 mitochondriaalmembraaneiwit-geassocieerde neurodegeneratie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12581361000146114 neurodegeneratie geassocieerd met eiwit van mitochondriaal membraan nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12581371000146115 neurodegeneratie geassocieerd met eiwit van mitochondriaal membraan (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial membrane protein associated neurodegeneration (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Mitochondrial membrane protein associated neurodegeneration (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Mitochondrial membrane protein associated neurodegeneration (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships

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Active

Source

Characteristic

Refinability

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Reference Sets

Description inactivation indicator reference set