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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
dystrophie cornéenne amorphe postérieure morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant late-onset retinal degeneration (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Cone dystrophy with supernormal rod response (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
dystrophie maculaire annulaire concentrique bénigne morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
atrophie bifocale choriorétinienne progressive morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
atrophie bifocale choriorétinienne progressive morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 3
Autosomal dominant limb girdle muscular dystrophy type 1C (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 3
Autosomal dominant limb girdle muscular dystrophy type 1D (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 3
Autosomal dominant limb girdle muscular dystrophy type 1E (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 3
Autosomal dominant limb girdle muscular dystrophy type 1F (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 3
Autosomal dominant limb girdle muscular dystrophy type 1G (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 3
atrophie essentielle de l'iris (trouble) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Iridocorneal endothelial syndrome morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
dystrophie musculaire des ceintures autosomique récessive type 2G morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2K (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Leber's amaurosis morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 4
Cerebroretinal vasculopathy (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 5
Amaurosis hypertrichosis syndrome (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 4
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 4
Choroideremia with deafness and obesity syndrome (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 5
Bietti's crystalline retinopathy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Acquired Horner syndrome (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 3
Meesman's corneal dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Epithelial basement membrane dystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 6
Lipodystrophy, intellectual disability, deafness syndrome (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 6
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 8
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 9
Odontoleukodystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Oculotrichodysplasia (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 4
Oligocone trichromacy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Ossification anomaly with psychomotor developmental delay syndrome (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 3
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 7
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Epidermolysis bullosa simplex with muscular dystrophy (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 6
Stern Lubinsky Durrie syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
X-linked spastic paraplegia type 2 (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 6
X-linked spastic paraplegia type 2 (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 5
dystrophie réticulée de l'épithélium pigmentaire rétinien morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Subepithelial mucinous corneal dystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive bestrophinopathy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 5
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 4
Retinohepatoendocrinologic syndrome (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 4
Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
lipodystrophie partielle familiale type Köbberling morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 4
Autosomal recessive limb girdle muscular dystrophy type 2J (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2O (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
dystrophie cornéenne de Lisch morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Lipodystrophy due to peptidic growth factors deficiency (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 4
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 6
Aland Islands eye disease (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
5-amino-4-imidazole carboxamide ribosiduria (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
dystrophie du système pileux morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Primary hair dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Secondary hair dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Idiopathic hair dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital muscular dystrophy Paradas type (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Distal muscular dystrophy with juvenile onset morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Distal myopathy 2 morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Butterfly-shaped pigmentary macular dystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
dystrophie musculaire des ceintures autosomique récessive type 2Y morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Genetic lipodystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 5
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 6
Distal myopathy Welander type (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Autosomal recessive limb girdle muscular dystrophy type 2P (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2Q (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2L (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
dystrophie musculaire des ceintures autosomique récessive type 2N morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2M (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
diabète lipoatrophique morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Cervical sympathetic dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Cleft lip retinopathy syndrome (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 4
Autosomal recessive limb girdle muscular dystrophy type 2S (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2T (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2R (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
syndrome de déficience intellectuelle liée à l'X-spasticité des membres-dystrophie de la rétine-diabète insipide morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 4
Dermatoleukodystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Late-infantile neuronal ceroid lipofuscinosis morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some
Distal myopathy with posterior leg and anterior hand involvement (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Distal myopathy with early respiratory muscle involvement (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 4
syndrome de François morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
syndrome de François morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Lichen sclerosus et atrophicus of the vulva morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
syndrome de Robinson avec dystrophie unguéale et surdité morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Dilated cardiomyopathy due to myotonic dystrophy (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some
syndrome de Schwartz-Jampel (trouble) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some
Morquio syndrome morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some
céroïde-lipofuscinose neuronale morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some
Hepatosis dietetica (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some
Familial partial lipodystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2

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