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4720007: Dystrophy (morphologic abnormality)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
8873011 Dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dystrophy (morphologic abnormality) est un(e) (attribut) Degenerative abnormality true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Bull's eye macular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Tapetoretinal dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Hyaline dystrophy of Bruch's membrane morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Cone dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Hereditary retinal dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
X-linked retinitis pigmentosa morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
syndrome associant rétinite pigmentaire et surdité morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Usher syndrome type 2 morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Cone monochromatism morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Congenital stationary night blindness morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Hereditary retinal dystrophy primarily involving retinal pigment epithelium morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Juvenile retinoschisis morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Dominant drusen morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Progressive cone-rod dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Hereditary macular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
achromatopsie (trouble) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Progressive rod dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
HSMN IV morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Autosomal dominant retinitis pigmentosa morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Sorsby's fundus dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Hereditary retinal dystrophy primarily involving sensory retina morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Hereditary retinal dystrophies in lipidoses morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Pigmentary retinal dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive retinitis pigmentosa morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Fundus flavimaculatus (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Hyaline retinal dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
X-linked retinitis pigmentosa heterozygote morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Retinitis pigmentosa-deafness-ataxia syndrome morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Vitreoretinal dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Stargardt's disease morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Rod dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Macular retinoschisis morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 3
Retinal dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Adult vitelliform macular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Oguchi's disease morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
North Carolina macular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Rod monochromatism morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Progressive cone dystrophy (without rod involvement) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Dystrophy of sensory retina (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
lipodystrophie partielle, avec anomalie de Rieger, retard statural, et diabète sucré insulinoprive morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Mucopolysaccharidosis, MPS-IV-B morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some
Median nail dystrophy of Heller morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
dystrophie myotonique congénitale morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Metachromatic leukodystrophy, adult type morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Globoid cell leucodystrophy, late-onset morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Amelogenesis imperfecta co-occurrent with cone rod dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Squamous cell hyperplasia of vulva morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Mixed renal osteodystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Western type of congenital muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 4
Congenital muscular dystrophy with arthrogryposis multiplex congenita morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 4
Eichsfeld type congenital muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 4
Ullrich congenital muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 4
dystrophie musculaire congénitale de Walker-Warburg morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Congenital muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 4
Congenital onychauxis morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 3
Pattern dystrophy of macula morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Triphalangeal thumbs with onychodystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 3
dystrophie musculaire scapulofibulaire grave avec cardiomyopathie morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Bietti's crystalline retinopathy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
leucodystrophie autosomique dominante de l'adulte morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Tibial muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
dystrophie musculaire distale morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Oculopharyngeal muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Alexander's disease morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Distal muscular dystrophy, Miyoshi type morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Autosomal recessive muscular dystrophy with gene located at 15q morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Benign congenital muscular dystrophy with finger flexion contractures morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
vitréo-rétino-choroïdopathie autosomique dominante morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Neuroaxonal leukodystrophy (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 3
Retinal dystrophy due to systemic disorder (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Congenital generalised lipodystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
RNA polymerase III-related leukodystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Lipodystrophy caused by antiretroviral drug (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Familial partial lipodystrophy type 2 (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 4
Progressive encephalopathy with severe infantile anorexia (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 4
Retinitis punctata albescens (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Bothnia retinal dystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Autosomal recessive limb girdle muscular dystrophy type 2D (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2A (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 4
Epithelial recurrent erosion dystrophy of cornea (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Severe early childhood onset retinal dystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Pelizaeus Merzbacher like disease (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2C (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2F (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
dystrophie musculaire des ceintures autosomique dominante type 1B morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2B (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Bethlem myopathy (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 3
X-linked endothelial dystrophy of cornea (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Grayson Wilbrandt dystrophy of cornea (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Autosomal recessive limb girdle muscular dystrophy type 2E (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 3
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
dystrophie cornéenne amorphe postérieure morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1

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