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4720007: Dystrophy (morphologic abnormality)

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

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

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

7911000052117 dystrofi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Renal osteodystrophy with low bone turnover (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease null syndrome	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Congenital dystrophy of cornea (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease in female carrier	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Retinitis pigmentosa-deafness syndrome type 3 (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	4
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	3
Lipodystrophy due to juvenile dermatomyositis	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Vanishing white matter disease (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Chromosome Xp11.3 microdeletion syndrome (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	3
Hypotrichosis and deafness syndrome	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Autosomal recessive Emery-Dreifuss muscular dystrophy	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
X-linked Emery-Dreifuss muscular dystrophy	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Generalized congenital lipodystrophy with myopathy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Ovarioleukodystrophy	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	3
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Adenylosuccinate synthetase-like 1-related distal myopathy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
POGLUT1-related limb girdle muscular dystrophy R21	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Myotonic dystrophy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Proximal myotonic myopathy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
LIMS2-related limb girdle muscular dystrophy	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
VPS11-related autosomal recessive hypomyelinating leukodystrophy	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Retinal dystrophy due to GM2 gangliosidosis	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Martinique crinkled retinal pigment epitheliopathy	Associated morphology	True	Dystrophy	Inferred relationship	Some	1

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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
7911000052117	dystrofi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)