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4720007: Dystrophy (morphologic abnormality)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
784632017 Dystrophy (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core
8873011 Dystrophy en Synonym Active Case insensitive 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
Autosomal recessive limb girdle muscular dystrophy type 2B Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2I Associated morphology True Dystrophy Inferred relationship Some 1
Bethlem myopathy Associated morphology False Dystrophy Inferred relationship Some 3
X-linked endothelial corneal dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Grayson Wilbrandt corneal dystrophy Associated morphology True Dystrophy Inferred relationship Some 3
Autosomal recessive limb girdle muscular dystrophy type 2E Associated morphology True Dystrophy Inferred relationship Some 1
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome Associated morphology False Dystrophy Inferred relationship Some 3
Primary ciliary dyskinesia and retinitis pigmentosa syndrome Associated morphology True Dystrophy Inferred relationship Some 3
Primary ciliary dyskinesia and retinitis pigmentosa syndrome Associated morphology False Dystrophy Inferred relationship Some 2
Posterior amorphous corneal dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal dominant late-onset retinal degeneration Associated morphology True Dystrophy Inferred relationship Some 1
Cone dystrophy with supernormal rod response Associated morphology True Dystrophy Inferred relationship Some 1
Benign concentric annular macular dystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Progressive bifocal chorioretinal atrophy Associated morphology True Dystrophy Inferred relationship Some 2
Progressive bifocal chorioretinal atrophy Associated morphology True Dystrophy Inferred relationship Some 3
Autosomal dominant limb girdle muscular dystrophy type 1A 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 Associated morphology False Dystrophy Inferred relationship Some 3
Autosomal dominant limb girdle muscular dystrophy type 1E Associated morphology False Dystrophy Inferred relationship Some 3
Autosomal dominant limb girdle muscular dystrophy type 1F Associated morphology False Dystrophy Inferred relationship Some 3
Autosomal dominant limb girdle muscular dystrophy type 1G 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 Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2K Associated morphology True Dystrophy Inferred relationship Some 1
Leber congenital amaurosis Associated morphology True Dystrophy Inferred relationship Some 2
Corneal dystrophy and perceptive deafness syndrome Associated morphology True Dystrophy Inferred relationship Some 4
Cerebroretinal vasculopathy Associated morphology False Dystrophy Inferred relationship Some 3
EEM syndrome Associated morphology False Dystrophy Inferred relationship Some 5
Amaurosis hypertrichosis syndrome Associated morphology False Dystrophy Inferred relationship Some 4
Corneal cerebellar syndrome Associated morphology True Dystrophy Inferred relationship Some 4
Choroideraemia with deafness and obesity syndrome Associated morphology False Dystrophy Inferred relationship Some 5
Bietti's crystalline retinopathy Associated morphology False Dystrophy Inferred relationship Some 1
Acquired Horner syndrome Associated morphology False Dystrophy Inferred relationship Some 3
Juvenile epithelial corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Epithelial basement membrane dystrophy Associated morphology True Dystrophy Inferred relationship Some 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Associated morphology True Dystrophy Inferred relationship Some 6
Lipodystrophy, intellectual disability, deafness syndrome Associated morphology False Dystrophy Inferred relationship Some 6
DOORS syndrome Associated morphology False Dystrophy Inferred relationship Some 8
DOORS syndrome Associated morphology False Dystrophy Inferred relationship Some 9
Odontoleukodystrophy Associated morphology True Dystrophy Inferred relationship Some 3
Oculotrichodysplasia Associated morphology False Dystrophy Inferred relationship Some 4
Oligocone trichromacy Associated morphology True Dystrophy Inferred relationship Some 1
Ossification anomaly with psychomotor developmental delay syndrome Associated morphology False Dystrophy Inferred relationship Some 3
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Associated morphology False Dystrophy Inferred relationship Some 7
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Associated morphology False Dystrophy Inferred relationship Some 2
Epidermolysis bullosa simplex with muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 6
Stern Lubinsky Durrie syndrome Associated morphology True Dystrophy Inferred relationship Some 3
Multifocal pattern dystrophy simulating fundus flavimaculatus Associated morphology True Dystrophy Inferred relationship Some 1
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Associated morphology True Dystrophy Inferred relationship Some 3
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome Associated morphology True Dystrophy Inferred relationship Some 3
Spastic paraplegia type 2 Associated morphology False Dystrophy Inferred relationship Some 6
Spastic paraplegia type 2 Associated morphology True Dystrophy Inferred relationship Some 5
Reticular dystrophy of retinal pigment epithelium Associated morphology True Dystrophy Inferred relationship Some 1
Subepithelial mucinous corneal dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive bestrophinopathy Associated morphology True Dystrophy Inferred relationship Some 1
RHYNS syndrome Associated morphology False Dystrophy Inferred relationship Some 5
RHYNS syndrome Associated morphology True Dystrophy Inferred relationship Some 4
Retinohepatoendocrinologic syndrome Associated morphology False Dystrophy Inferred relationship Some 4
Posterior column ataxia with retinitis pigmentosa syndrome Associated morphology True Dystrophy Inferred relationship Some 2
Familial partial lipodystrophy Kobberling type Associated morphology True Dystrophy Inferred relationship Some 4
Autosomal recessive limb girdle muscular dystrophy type 2J Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2O Associated morphology True Dystrophy Inferred relationship Some 1
Lisch epithelial corneal dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Lipodystrophy due to peptidic growth factors deficiency Associated morphology True Dystrophy Inferred relationship Some 2
Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum Associated morphology True Dystrophy Inferred relationship Some 4
Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum Associated morphology False Dystrophy Inferred relationship Some 6
Aland Islands eye disease Associated morphology True Dystrophy Inferred relationship Some 1
5-amino-4-imidazole carboxamide ribosiduria Associated morphology False Dystrophy Inferred relationship Some 2
Hair dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Primary hair dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Secondary hair dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Idiopathic hair dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Congenital myopathy Paradas type Associated morphology False Dystrophy Inferred relationship Some 2
Distal muscular dystrophy with juvenile onset Associated morphology True Dystrophy Inferred relationship Some 2
Distal myopathy 2 Associated morphology True Dystrophy Inferred relationship Some 1
Butterfly-shaped pigmentary macular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2Y Associated morphology True Dystrophy Inferred relationship Some 1
Genetic lipodystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Ataxia co-occurrent and due to phytanic acid storage disease Associated morphology False Dystrophy Inferred relationship Some 5
Ataxia co-occurrent and due to phytanic acid storage disease Associated morphology True Dystrophy Inferred relationship Some 6
Distal myopathy Welander type Associated morphology True Dystrophy Inferred relationship Some 2
Autosomal recessive limb girdle muscular dystrophy type 2P Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2Q Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2L Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2N Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2M Associated morphology True Dystrophy Inferred relationship Some 1
Lipoatrophic diabetes Associated morphology False Dystrophy Inferred relationship Some 2
Cervical sympathetic dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Cleft lip retinopathy syndrome Associated morphology False Dystrophy Inferred relationship Some 4
Autosomal recessive limb girdle muscular dystrophy type 2S Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2T Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2R Associated morphology False Dystrophy Inferred relationship Some 1
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Associated morphology True Dystrophy Inferred relationship Some 4
Dermatoleukodystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome Associated morphology True Dystrophy Inferred relationship Some 3
Late-infantile neuronal ceroid lipofuscinosis Associated morphology False Dystrophy Inferred relationship Some
Distal myopathy with posterior leg and anterior hand involvement Associated morphology True Dystrophy Inferred relationship Some 2
Distal myopathy with early respiratory muscle involvement Associated morphology False Dystrophy Inferred relationship Some 2
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome Associated morphology True Dystrophy Inferred relationship Some 4
Francois syndrome Associated morphology False Dystrophy Inferred relationship Some 1

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