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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
Congenital dystrophy of cornea (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Pelizaeus-Merzbacher disease in female carrier morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Retinitis pigmentosa-deafness syndrome type 3 (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 4
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Lipodystrophy due to juvenile dermatomyositis morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Vanishing white matter disease (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Chromosome Xp11.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Hypotrichosis and deafness syndrome morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive Emery-Dreifuss muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
X-linked Emery-Dreifuss muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Generalized congenital lipodystrophy with myopathy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Ovarioleukodystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
POGLUT1-related limb girdle muscular dystrophy R21 morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Myotonic dystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Proximal myotonic myopathy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
LIMS2-related limb girdle muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
VPS11-related autosomal recessive hypomyelinating leukodystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Retinal dystrophy due to GM2 gangliosidosis morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Martinique crinkled retinal pigment epitheliopathy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Adynamic bone disease morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
AKT2-related familial partial lipodystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal semi-dominant severe lipodystrophic laminopathy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
CIDEC-related familial partial lipodystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
LIPE-related familial partial lipodystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant deafness with onychodystrophy syndrome morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Multiple mitochondrial dysfunctions syndrome type 4 morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
4H leukodystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Sagliker syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Incomplete achromatopsia morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Dystrophy of multiple endocrine glands (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Renal osteodystrophy due to hyperparathyroidism (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Progressive scapulohumeroperoneal distal myopathy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Keppen Lubinsky syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
RARS-related autosomal recessive hypomyelinating leucodystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 5
Dystrophy of posterior surface of cornea of bilateral eyes (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Dystrophy of posterior surface of cornea of bilateral eyes (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Hereditary dystrophy of cornea of bilateral eyes (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Hereditary dystrophy of cornea of bilateral eyes (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Dystrophy of anterior surface of cornea of bilateral eyes (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Dystrophy of anterior surface of cornea of bilateral eyes (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Macular dystrophy of substantia propria of cornea of bilateral eyes (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Macular dystrophy of substantia propria of cornea of bilateral eyes (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Stromal dystrophy of substantia propria of cornea of bilateral eyes (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Stromal dystrophy of substantia propria of cornea of bilateral eyes (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Lattice dystrophy of substantia propria of cornea of bilateral eyes (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Lattice dystrophy of substantia propria of cornea of bilateral eyes (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Megaconial congenital muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Goldmann-Favre syndrome morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Goldmann-Favre syndrome morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Limb girdle muscular dystrophy due to POMK deficiency morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Membranous lipodystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Median canaliform nail dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Dystrophic cardiomyopathy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Hyperplastic dystrophy est un(e) (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some
Pseudohypertrophic dystrophy est un(e) (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some
Fuchs' corneal dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Irido-corneo-endothelial syndrome morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Posterior polymorphous corneal dystrophy (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Chandler syndrome (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
chondrodystrophie malacique morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 3
chondrodystrophie malacique morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
lipoatrophie congénitale généralisée morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
chondrodystrophie malacique morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Distal muscular dystrophy with juvenile onset morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Muscular dystrophy with predominantly proximal limb girdle distribution morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
X-linked muscular dystrophy with limb girdle distribution morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
X-linked muscular dystrophy with abnormal dystrophin morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Intermediate X-linked muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Manifesting female carrier of X-linked muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
X-linked limb girdle muscular dystrophy with normal dystrophin morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Ji muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Hereditary myopathy limited to females morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive muscular dystrophy with limb girdle distribution morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Severe autosomal recessive muscular dystrophy of childhood - North African type morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive muscular dystrophy with gene located at 15q morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Reunion-Indiana Amish type muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Western type of congenital muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital muscular dystrophy with arthrogryposis multiplex congenita morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Ullrich congenital muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Eichsfeld type congenital muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Hutterite type of muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant muscular dystrophy with limb girdle distribution morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant muscular dystrophy with gene located at 5q31 morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1

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