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4720007: Dystrophy (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
8873011 Dystrophy en Synonym Active Entire term case insensitive SNOMED CT core module
784632017 Dystrophy (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dystrophy Is a Degenerative abnormality true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Renal osteodystrophy with low bone turnover Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Pelizaeus-Merzbacher disease null syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Congenital dystrophy of cornea Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Pelizaeus-Merzbacher disease in female carrier Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Autosomal dominant Emery-Dreifuss muscular dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Retinitis pigmentosa-deafness syndrome type 3 Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 4
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 3
Lipodystrophy due to juvenile dermatomyositis Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Vanishing white matter disease Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Chromosome Xp11.3 microdeletion syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 3
Hypotrichosis and deafness syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal recessive Emery-Dreifuss muscular dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
X-linked Emery-Dreifuss muscular dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Generalized congenital lipodystrophy with myopathy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Ovarioleukodystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 3
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Adenylosuccinate synthetase-like 1-related distal myopathy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Myotonic dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Proximal myotonic myopathy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Blood vessel epicardial substance related limb girdle muscular dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
LIM zinc finger domain containing 2-related limb girdle muscular dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Dystrophy of retina due to GM2 gangliosidosis Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Martinique crinkled retinal pigment epitheliopathy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Adynamic bone disease Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
AKT serine/threonine kinase 2-related familial partial lipodystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal semi-dominant severe lipodystrophic laminopathy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Cell death inducing DFFA like effector C-related familial partial lipodystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Lipase E, hormone sensitive type-related familial partial lipodystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Autosomal dominant deafness with onychodystrophy syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Multiple mitochondrial dysfunctions syndrome type 4 Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
4H leukodystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Sagliker syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Incomplete achromatopsia Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Dystrophy of multiple endocrine glands Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Renal osteodystrophy due to hyperparathyroidism Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Progressive scapulohumeroperoneal distal myopathy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Keppen Lubinsky syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 5
Dystrophy of posterior surface of cornea of bilateral eyes Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Dystrophy of posterior surface of cornea of bilateral eyes Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Hereditary dystrophy of cornea of bilateral eyes Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Hereditary dystrophy of cornea of bilateral eyes Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Dystrophy of anterior surface of cornea of bilateral eyes Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Dystrophy of anterior surface of cornea of bilateral eyes Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Macular dystrophy of substantia propria of cornea of bilateral eyes Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Macular dystrophy of substantia propria of cornea of bilateral eyes Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Stromal dystrophy of substantia propria of cornea of bilateral eyes Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Stromal dystrophy of substantia propria of cornea of bilateral eyes Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Lattice dystrophy of substantia propria of cornea of bilateral eyes Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Lattice dystrophy of substantia propria of cornea of bilateral eyes Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Megaconial congenital muscular dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Goldmann-Favre syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Goldmann-Favre syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Retinitis pigmentosa due to systemic disease Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Peripapillary choroidal dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Leukodystrophy due to alkaline ceramidase 3 deficiency Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Pitting of nail due to alopecia areata Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Nail dystrophy due to epidermolysis bullosa Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Alexander disease juvenile form Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Alexander disease infantile form Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Alexander disease adult form Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Best vitelliform macular dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 2
Lipoatrophic diabetes mellitus without complication Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Lipoatrophic diabetes mellitus without complication Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 2
Lipoatrophic diabetes mellitus without complication Associated morphology True Dystrophy Inferred relationship Existential restriction modifier 1
Hereditary progressive muscular dystrophy NOS Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Leucodystrophy NOS Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Other stromal corneal dystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Other specified hereditary progressive muscular dystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Lipodystrophy NOS Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Corneal dystrophy unspecified Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Other anterior corneal dystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Hereditary corneal dystrophy NOS Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Other limb girdle muscular dystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Dystrophy of vulva NOS Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Congenital hereditary muscular dystrophy NOS Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1
Adult-onset autosomal dominant leucodystrophy Associated morphology False Dystrophy Inferred relationship Existential restriction modifier 1

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