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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
Oligocone trichromacy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Ossification anomaly with psychomotor developmental delay syndrome Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 3
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 7
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 2
Epidermolysis bullosa simplex with muscular dystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 6
Stern Lubinsky Durrie syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 3
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 3
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 3
X-linked spastic paraplegia type 2 Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 6
X-linked spastic paraplegia type 2 Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 5
Reticular dystrophy of retinal pigment epithelium Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Subepithelial mucinous corneal dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal recessive bestrophinopathy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 5
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 4
Retinohepatoendocrinologic syndrome Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 4
Autosomal recessive posterior column ataxia and retinitis pigmentosa Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Familial partial lipodystrophy Kobberling type Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 4
Autosomal recessive limb girdle muscular dystrophy type 2J Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal recessive limb girdle muscular dystrophy type 2O Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Lisch epithelial corneal dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Lipodystrophy due to peptidic growth factors deficiency Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 4
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 6
Aland Islands eye disease Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
5-amino-4-imidazole carboxamide ribosiduria Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 2
Congenital muscular dystrophy Paradas type Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 2
Distal muscular dystrophy with juvenile onset Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Distal myopathy 2 Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Butterfly-shaped pigmentary macular dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal recessive limb girdle muscular dystrophy type 2Y Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Genetic lipodystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Ataxia co-occurrent and due to phytanic acid storage disease Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 5
Ataxia co-occurrent and due to phytanic acid storage disease Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 6
Distal myopathy Welander type Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Autosomal recessive limb girdle muscular dystrophy type 2P Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal recessive limb girdle muscular dystrophy type 2Q Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal recessive limb girdle muscular dystrophy type 2L Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal recessive limb girdle muscular dystrophy type 2N Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal recessive limb girdle muscular dystrophy type 2M Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Cleft lip retinopathy syndrome Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 4
Autosomal recessive limb girdle muscular dystrophy type 2S Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal recessive limb girdle muscular dystrophy type 2T Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal recessive limb girdle muscular dystrophy type 2R Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 4
Dermatoleukodystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 2
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 3
Distal myopathy with posterior leg and anterior hand involvement Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Distal myopathy with early respiratory muscle involvement Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 2
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 4
Francois syndrome Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Francois syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Best vitelliform macular dystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Finnish upper limb onset distal myopathy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Kelch like family member 9 related early-onset distal myopathy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Oculopharyngodistal myopathy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 4
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 3
Fundus albipunctatus Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Laing early-onset distal myopathy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Kelch like family member 9 related early-onset distal myopathy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal recessive myogenic arthrogryposis multiplex congenita Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Congenital muscular dystrophy type 1B Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Finnish upper limb onset distal myopathy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Congenital muscular dystrophy with hyperlaxity Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Laing early-onset distal myopathy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Oculopharyngodistal myopathy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Kandori fleck retina syndrome Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Alstrom syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Leucodystrophy without a known biochemical basis Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 2
Phytanic acid storage disease Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 3
Leukodystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Galactosylceramide beta-galactosidase deficiency Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Ribonucleic acid polymerase III-related leukodystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 3
Progressive encephalopathy with severe infantile anorexia Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Tubulin beta 4A class IVa related leukodystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Pelizaeus Merzbacher like disease Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Cerebroretinal vasculopathy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 2
Dermatoleukodystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Pelizaeus-Merzbacher disease Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Type III transitional Pelizaeus-Merzbacher disease Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Pelizaeus-Merzbacher disease, classic form Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Pelizaeus-Merzbacher disease, connatal variant Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Type V atypical Pelizaeus-Merzbacher disease Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Type IV adult Pelizaeus-Merzbacher disease Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Type VI Cockayne Pelizaeus-Merzbacher disease Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Ataxia co-occurrent and due to phytanic acid storage disease Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Fundus pulverulentus Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Retinal macular dystrophy type 2 Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Kandori fleck retina syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Benign concentric annular macular dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Occult macular dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Familial benign flecked retina Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Distal myopathy with posterior leg and anterior hand involvement Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Adult-onset distal myopathy due to valosin containing protein mutation Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Distal myopathy with early respiratory muscle involvement Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Tibial muscular dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Distal myopathy Welander type Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1

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