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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
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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