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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
Lattice corneal dystrophy, isolated form Associated morphology False Dystrophy Inferred relationship Some 3
Congenital onychoatrophy Associated morphology False Dystrophy Inferred relationship Some 1
Retinal dystrophy in cerebroretinal lipidosis Associated morphology True Dystrophy Inferred relationship Some 1
Retinal dystrophy in systemic lipidosis Associated morphology True Dystrophy Inferred relationship Some 1
Pattern dystrophy of macula Associated morphology False Dystrophy Inferred relationship Some 1
Macular and peripheral retinoschisis Associated morphology False Dystrophy Inferred relationship Some 2
Vitelliform dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Retinitis pigmentosa Associated morphology True Dystrophy Inferred relationship Some 1
Usher syndrome type 1 Associated morphology True Dystrophy Inferred relationship Some 1
Bull's eye macular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Tapetoretinal dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Hyaline dystrophy of Bruch's membrane Associated morphology True Dystrophy Inferred relationship Some 1
Cone dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Hereditary retinal dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
X-linked retinitis pigmentosa Associated morphology True Dystrophy Inferred relationship Some 1
Retinitis pigmentosa-deafness syndrome Associated morphology True Dystrophy Inferred relationship Some 1
Usher syndrome type 2 Associated morphology True Dystrophy Inferred relationship Some 1
Cone monochromatism Associated morphology False Dystrophy Inferred relationship Some 2
Congenital stationary night blindness Associated morphology False Dystrophy Inferred relationship Some 2
Hereditary retinal dystrophy primarily involving retinal pigment epithelium Associated morphology True Dystrophy Inferred relationship Some 1
Juvenile retinoschisis Associated morphology True Dystrophy Inferred relationship Some 2
Dominant drusen Associated morphology False Dystrophy Inferred relationship Some 1
Progressive cone-rod dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Hereditary macular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Achromatopsia Associated morphology False Dystrophy Inferred relationship Some 2
Progressive rod dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Phytanic acid storage disease Associated morphology True Dystrophy Inferred relationship Some 2
Autosomal dominant retinitis pigmentosa Associated morphology True Dystrophy Inferred relationship Some 1
Sorsby's fundus dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Hereditary retinal dystrophy primarily involving sensory retina Associated morphology True Dystrophy Inferred relationship Some 1
Hereditary retinal dystrophies in lipidoses Associated morphology True Dystrophy Inferred relationship Some 1
Pigmentary retinal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Autosomal recessive retinitis pigmentosa Associated morphology True Dystrophy Inferred relationship Some 1
Fundus flavimaculatus Associated morphology True Dystrophy Inferred relationship Some 2
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 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
Dystrophy of sensory retina Associated morphology True Dystrophy Inferred relationship Some 1
Lipodystrophy, partial, with Rieger anomaly, short stature, and insulinopenic diabetes mellitus Associated morphology False Dystrophy Inferred relationship Some 2
Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes Associated morphology False Dystrophy Inferred relationship Some 2
Mucopolysaccharidosis, MPS-IV-B Associated morphology False Dystrophy Inferred relationship Some
Median nail dystrophy of Heller Associated morphology False Dystrophy Inferred relationship Some 1
Congenital myotonic dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Metachromatic leucodystrophy, adult type Associated morphology True Dystrophy Inferred relationship Some 2
Globoid cell leucodystrophy, 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
Squamous cell hyperplasia of vulva Associated morphology False Dystrophy Inferred relationship Some 1
Mixed renal osteodystrophy 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 leucodystrophy 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's 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 Associated morphology True Dystrophy Inferred relationship Some 1
Neuroaxonal leucodystrophy Associated morphology False Dystrophy Inferred relationship Some 3
Retinal dystrophy due to systemic disorder Associated morphology True Dystrophy Inferred relationship Some 2
Congenital generalised lipodystrophy Associated morphology False Dystrophy Inferred relationship Some 2
RNA polymerase III-related leukodystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Lipodystrophy caused by antiretroviral drug Associated morphology True Dystrophy Inferred relationship Some 2
Familial partial lipodystrophy Dunnigan type Associated morphology True Dystrophy Inferred relationship Some 4
RAVINE syndrome Associated morphology False Dystrophy Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia Associated morphology False Dystrophy Inferred relationship Some 4
Retinitis punctata albescens Associated morphology True Dystrophy Inferred relationship Some 1
Bothnia retinal dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Bedouin spastic ataxia syndrome Associated morphology True Dystrophy Inferred relationship Some 3
MORM syndrome Associated morphology True Dystrophy Inferred relationship Some 3
Autosomal recessive limb girdle muscular dystrophy type 2D Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2A Associated morphology True Dystrophy Inferred relationship Some 1
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Associated morphology False Dystrophy Inferred relationship Some 4
Epithelial recurrent erosion dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Severe early childhood onset retinal dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Pelizaeus Merzbacher like disease Associated morphology False Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2C Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2F 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 Associated morphology True Dystrophy Inferred relationship Some 1

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