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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
8874017 Dystrophy, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
8875016 Defective nutrition, NOS en Synonym (core metadata concept) Inactive Only initial character 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
Familial partial lipodystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
algodystrophie morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
dystrophie vulvaire morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
céroïde-lipofuscinose neuronale infantile (trouble) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some
Juvenile neuronal ceroid lipofuscinosis morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some
Adult neuronal ceroid lipofuscinosis morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some
lipodystrophie morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Mucopolysaccharidosis, MPS-IV-A morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some
cutis laxa avec ostéodystrophie morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
dystrophie thoracique asphyxiante morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some
Acquired partial lipodystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Steinert myotonic dystrophy syndrome morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
chondrodystrophie malacique morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
dystrophie unguéale médiane morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Acquired generalized lipodystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Best vitelliform macular dystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Finnish upper limb onset distal myopathy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
KLHL9-related early-onset distal myopathy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Oculopharyngodistal myopathy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 4
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Fundus albipunctatus morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
myopathie distale précoce type Laing morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
KLHL9-related early-onset distal myopathy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Congenital muscular dystrophy type 1B morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Finnish upper limb onset distal myopathy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital muscular dystrophy with hyperlaxity (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
myopathie distale précoce type Laing morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Oculopharyngodistal myopathy (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Kandori fleck retina syndrome morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Alstrom syndrome morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Partial face-sparing lipodystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Leucodystrophy without a known biochemical basis morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
HSMN IV morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Leukodystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Galactosylceramide beta-galactosidase deficiency morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
RNA polymerase III-related leukodystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Progressive encephalopathy with severe infantile anorexia (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
TUBB4A-related leukodystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Pelizaeus Merzbacher like disease (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Cerebroretinal vasculopathy (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Dermatoleukodystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Pelizaeus-Merzbacher disease morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Type III transitional Pelizaeus-Merzbacher disease morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Pelizaeus-Merzbacher disease, classic form morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Pelizaeus-Merzbacher disease, connatal variant (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Type V atypical Pelizaeus-Merzbacher disease morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Type IV adult Pelizaeus-Merzbacher disease morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Type VI Cockayne Pelizaeus-Merzbacher disease morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
fundus pulverulentus morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Retinal macular dystrophy type 2 morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Kandori fleck retina syndrome morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
dystrophie maculaire annulaire concentrique bénigne morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Occult macular dystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Familial benign flecked retina morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Distal myopathy with posterior leg and anterior hand involvement (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Adult-onset distal myopathy due to valosin containing protein mutation (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Distal myopathy with early respiratory muscle involvement (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Tibial muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Distal myopathy Welander type (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital muscular dystrophy due to lamin A/C mutation (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant limb-girdle muscular dystrophy type 1H morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1

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