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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
8874017 Dystrophy, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
8875016 Defective nutrition, NOS en Synonym Inactive Initial character 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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