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4720007: Dystrophy (morphologic abnormality)

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

2 descendants. Search Descendants:

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

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