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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
8873011 Dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
784632017 Dystrophy (morphologic abnormality) en Fully specified name 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 Is a Degenerative abnormality true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Renal osteodystrophy with low bone turnover (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Pelizaeus-Merzbacher disease null syndrome Associated morphology True Dystrophy Inferred relationship Some 2
Congenital dystrophy of cornea (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Pelizaeus-Merzbacher disease in female carrier Associated morphology True Dystrophy Inferred relationship Some 2
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Retinitis pigmentosa-deafness syndrome type 3 (disorder) Associated morphology True Dystrophy Inferred relationship Some 4
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 3
Lipodystrophy due to juvenile dermatomyositis Associated morphology True Dystrophy Inferred relationship Some 1
Vanishing white matter disease (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Chromosome Xp11.3 microdeletion syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 3
Hypotrichosis and deafness syndrome Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive Emery-Dreifuss muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
X-linked Emery-Dreifuss muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Generalized congenital lipodystrophy with myopathy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Ovarioleukodystrophy Associated morphology True Dystrophy Inferred relationship Some 2
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Associated morphology True Dystrophy Inferred relationship Some 1
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Associated morphology True Dystrophy Inferred relationship Some 2
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 3
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
POGLUT1-related limb girdle muscular dystrophy R21 Associated morphology True Dystrophy Inferred relationship Some 1
Myotonic dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Proximal myotonic myopathy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
LIMS2-related limb girdle muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
VPS11-related autosomal recessive hypomyelinating leukodystrophy Associated morphology True Dystrophy Inferred relationship Some 2
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome Associated morphology True Dystrophy Inferred relationship Some 1
Retinal dystrophy due to GM2 gangliosidosis Associated morphology True Dystrophy Inferred relationship Some 1
Martinique crinkled retinal pigment epitheliopathy Associated morphology True Dystrophy Inferred relationship Some 1
Adynamic bone disease Associated morphology True Dystrophy Inferred relationship Some 1
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
AKT2-related familial partial lipodystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal semi-dominant severe lipodystrophic laminopathy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
CIDEC-related familial partial lipodystrophy Associated morphology True Dystrophy Inferred relationship Some 1
LIPE-related familial partial lipodystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal dominant deafness with onychodystrophy syndrome Associated morphology True Dystrophy Inferred relationship Some 2
Multiple mitochondrial dysfunctions syndrome type 4 Associated morphology True Dystrophy Inferred relationship Some 2
4H leukodystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Sagliker syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Incomplete achromatopsia Associated morphology True Dystrophy Inferred relationship Some 1
Dystrophy of multiple endocrine glands (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Renal osteodystrophy due to hyperparathyroidism (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Progressive scapulohumeroperoneal distal myopathy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Keppen Lubinsky syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Associated morphology True Dystrophy Inferred relationship Some 2
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
RARS-related autosomal recessive hypomyelinating leucodystrophy Associated morphology True Dystrophy Inferred relationship Some 2
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 5
Dystrophy of posterior surface of cornea of bilateral eyes (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Dystrophy of posterior surface of cornea of bilateral eyes (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Hereditary dystrophy of cornea of bilateral eyes (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Hereditary dystrophy of cornea of bilateral eyes (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Dystrophy of anterior surface of cornea of bilateral eyes (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Dystrophy of anterior surface of cornea of bilateral eyes (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Macular dystrophy of substantia propria of cornea of bilateral eyes (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Macular dystrophy of substantia propria of cornea of bilateral eyes (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Stromal dystrophy of substantia propria of cornea of bilateral eyes (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Stromal dystrophy of substantia propria of cornea of bilateral eyes (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Lattice dystrophy of substantia propria of cornea of bilateral eyes (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Lattice dystrophy of substantia propria of cornea of bilateral eyes (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Megaconial congenital muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 2
Goldmann-Favre syndrome Associated morphology True Dystrophy Inferred relationship Some 2
Goldmann-Favre syndrome Associated morphology True Dystrophy Inferred relationship Some 1
Retinitis pigmentosa due to systemic disease Associated morphology True Dystrophy Inferred relationship Some 1
Limb girdle muscular dystrophy due to POMK deficiency Associated morphology True Dystrophy Inferred relationship Some 1
Peripapillary choroidal dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Pitting of nail due to alopecia areata (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Nail dystrophy due to epidermolysis bullosa Associated morphology True Dystrophy Inferred relationship Some 1
Alexander disease juvenile form Associated morphology False Dystrophy Inferred relationship Some 2
Alexander disease type I (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Alexander disease adult form Associated morphology False Dystrophy Inferred relationship Some 2
Best vitelliform macular dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Usher syndrome type 1F (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Spondylometaphyseal dysplasia, corneal dystrophy syndrome Associated morphology True Dystrophy Inferred relationship Some 2
Aicardi Goutieres syndrome Associated morphology True Dystrophy Inferred relationship Some 4
Aicardi Goutieres syndrome type 1 Associated morphology True Dystrophy Inferred relationship Some 5
Aicardi Goutieres syndrome type 2 Associated morphology True Dystrophy Inferred relationship Some 5
Aicardi Goutieres syndrome type 3 Associated morphology True Dystrophy Inferred relationship Some 5
Aicardi Goutieres syndrome type 4 (disorder) Associated morphology True Dystrophy Inferred relationship Some 5
Aicardi Goutieres syndrome type 5 (disorder) Associated morphology True Dystrophy Inferred relationship Some 5
Adrenoleukodystrophy Associated morphology True Dystrophy Inferred relationship Some 2
Neonatal adrenoleukodystrophy Associated morphology True Dystrophy Inferred relationship Some 3
Adolescent X-linked adrenoleukodystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 3
Childhood cerebral X-linked adrenoleukodystrophy Associated morphology True Dystrophy Inferred relationship Some 3
Sphingolipid activator protein 1 deficiency Associated morphology True Dystrophy Inferred relationship Some 2
Cholestanol storage disease Associated morphology False Dystrophy Inferred relationship Some 5
Spongy degeneration of central nervous system Associated morphology True Dystrophy Inferred relationship Some 2
Metachromatic leukodystrophy without arylsulfatase deficiency Associated morphology True Dystrophy Inferred relationship Some 2
Metachromatic leukodystrophy, congenital type Associated morphology True Dystrophy Inferred relationship Some 3
Metachromatic leucodystrophy, juvenile type Associated morphology True Dystrophy Inferred relationship Some 2
Metachromatic leukodystrophy, late infantile type Associated morphology True Dystrophy Inferred relationship Some 2
Arylsulfatase A deficiency Associated morphology True Dystrophy Inferred relationship Some 2
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator Associated morphology True Dystrophy Inferred relationship Some 2
Metachromatic leucodystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder) Associated morphology True Dystrophy Inferred relationship Some 3
Dystonia due to metachromatic leucodystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 5
Adrenomyeloneuropathy (disorder) Associated morphology True Dystrophy Inferred relationship Some 2

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