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4720007: dystrofie (afwijkende morfologie)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure (morphologic abnormality)\Degenerative abnormality\Dystrophy

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dystrophy	Is a	Degenerative abnormality	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Adrenomyeloneuropathy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Calpain-3-related limb girdle muscular dystrophy D4	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Multiple mitochondrial dysfunctions syndrome type 5 (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Nail dystrophy caused by chemical	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Essential iris atrophy of bilateral eyes (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	3
Essential iris atrophy of bilateral eyes (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	4
Essential iris atrophy of right eye (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Essential iris atrophy of left eye (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Sorsby pseudoinflammatory fundus dystrophy of left eye (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Sorsby pseudoinflammatory fundus dystrophy of right eye (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Sorsby pseudoinflammatory fundus dystrophy of bilateral eyes (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Sorsby pseudoinflammatory fundus dystrophy of bilateral eyes (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Fundus flavimaculatus of right eye (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Fundus flavimaculatus of left eye (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Cholestanol storage disease	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Hypomyelination of early myelinating structures (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Alexander disease type II	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
rigid spine syndrome	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
ziekte van Bethlem	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Primary nail dystrophy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Generalized lipodystrophy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Congenital hereditary nail dystrophy (disorder)	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Laing distal myopathy (disorder)	Associated morphology	False	Dystrophy	Inferred relationship	Some	3
Hereditary lipodystrophy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Secondary nail dystrophy (disorder)	Associated morphology	False	Dystrophy	Inferred relationship	Some	2
Non-familial adult vitelliform macular dystrophy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Familial adult vitelliform macular dystrophy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Non-familial adult vitelliform macular dystrophy (disorder)	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Familial adult vitelliform macular dystrophy (disorder)	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Laing distal myopathy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Secondary nail dystrophy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Atypical phytanic acid storage disease (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Atypical phytanic acid storage disease (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Congenital partial lipodystrophy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Male congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1

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Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
8873011	Dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
784632017	Dystrophy (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1185871000146119	dystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1185881000146117	dystrofie (afwijkende morfologie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7916171000146116	Dit is degeneratie van organen, weefsels en cellen, waardoor deze in omvang afnemen en/of minder goed gaan functioneren.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)