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4720007: Dystrophy (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module
8873011 Dystrophy en Synonym Active Entire term case insensitive SNOMED CT core module
784632017 Dystrophy (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dystrophy Is a Degenerative abnormality true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Hyaline retinal dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
X-linked retinitis pigmentosa heterozygote Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Retinitis pigmentosa-deafness-ataxia syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Vitreoretinal dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Stargardt's disease Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Rod dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Macular retinoschisis Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 3
Retinal dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Adult vitelliform macular dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Oguchi's disease Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
North Carolina macular dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Rod monochromatism Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 2
Progressive cone dystrophy (without rod involvement) Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Dystrophy of sensory retina Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Metachromatic leukodystrophy, adult type Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Globoid cell leukodystrophy, late-onset Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Amelogenesis imperfecta co-occurrent with cone rod dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Mixed renal osteodystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Western type of congenital muscular dystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 4
Congenital muscular dystrophy with arthrogryposis multiplex congenita Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 4
Eichsfeld type congenital muscular dystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 4
Ullrich congenital muscular dystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 4
Walker-Warburg congenital muscular dystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 2
Congenital muscular dystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 4
Congenital onychauxis Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 3
Pattern dystrophy of macula Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Triphalangeal thumbs with onychodystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 3
Severe scapuloperoneal muscular dystrophy with cardiomyopathy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Bietti's crystalline retinopathy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 3
Adult onset autosomal dominant leukodystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Tibial muscular dystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 2
Distal muscular dystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 2
Oculopharyngeal muscular dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Alexander's disease Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 3
Distal muscular dystrophy, Miyoshi type Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Autosomal recessive muscular dystrophy with gene located at 15q Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 2
Benign congenital muscular dystrophy with finger flexion contractures Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 2
Autosomal dominant vitreoretinochoroidopathy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Neuroaxonal leukodystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 3
Retinal dystrophy due to systemic disorder Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Ribonucleic acid polymerase III-related leukodystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Lipodystrophy caused by antiretroviral drug Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Familial partial lipodystrophy type 2 Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 4
Progressive encephalopathy with severe infantile anorexia Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Ophthalmomandibulomelic dysplasia Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 4
Retinitis punctata albescens Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Bothnia retinal dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Spinocerebellar degeneration co-occurrent with macular corneal dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 3
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 3
Autosomal recessive limb girdle muscular dystrophy type 2D Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal recessive limb girdle muscular dystrophy type 2A Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 4
Epithelial recurrent erosion dystrophy of cornea Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Severe early childhood onset retinal dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Pelizaeus Merzbacher like disease Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal recessive limb girdle muscular dystrophy type 2C Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal recessive limb girdle muscular dystrophy type 2F Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal dominant limb girdle muscular dystrophy type 1B Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal recessive limb girdle muscular dystrophy type 2B Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal recessive limb girdle muscular dystrophy type 2I Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Bethlem myopathy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 3
X-linked endothelial dystrophy of cornea Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Grayson Wilbrandt dystrophy of cornea Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 3
Autosomal recessive limb girdle muscular dystrophy type 2E Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 3
Primary ciliary dyskinesia and retinitis pigmentosa syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 3
Primary ciliary dyskinesia and retinitis pigmentosa syndrome Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 2
Posterior amorphous corneal dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal dominant late-onset retinal degeneration Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Cone dystrophy with supernormal rod response Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Benign concentric annular macular dystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 2
Progressive bifocal chorioretinal atrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Progressive bifocal chorioretinal atrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 3
Autosomal dominant limb girdle muscular dystrophy type 1A Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 3
Autosomal dominant limb girdle muscular dystrophy type 1C Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 3
Autosomal dominant limb girdle muscular dystrophy type 1D Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 3
Autosomal dominant limb girdle muscular dystrophy type 1E Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 3
Autosomal dominant limb girdle muscular dystrophy type 1F Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 3
Autosomal dominant limb girdle muscular dystrophy type 1G Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 3
Essential iris atrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Iridocorneal endothelial syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal recessive limb girdle muscular dystrophy type 2G Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal recessive limb girdle muscular dystrophy type 2K Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Leber's amaurosis Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 4
Cerebroretinal vasculopathy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 5
Amaurosis hypertrichosis syndrome Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 4
Spinocerebellar degeneration and corneal dystrophy syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 4
Choroideremia with deafness and obesity syndrome Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 5
Acquired Horner syndrome Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 3
Juvenile epithelial corneal dystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 2
Epithelial basement membrane dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 6
Lipodystrophy, intellectual disability, deafness syndrome Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 6
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 8
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 9
Odontoleukodystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 3
Oculotrichodysplasia Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 4
Oligocone trichromacy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1

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