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4720007: Dystrophy (morphologic abnormality)

Status: current, Primitive. 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 Case insensitive SNOMED CT core
8873011 Dystrophy en Synonym Active Case insensitive 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
Congenital corneal dystrophy 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 Associated morphology True Dystrophy Inferred relationship Some 1
Retinitis pigmentosa-deafness syndrome type 3 Associated morphology True Dystrophy Inferred relationship Some 4
Ectopia lentis, chorioretinal dystrophy, myopia syndrome 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 Associated morphology True Dystrophy Inferred relationship Some 2
Chromosome Xp11.3 microdeletion syndrome 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
Generalised congenital lipodystrophy with myopathy Associated morphology True Dystrophy Inferred relationship Some 1
Ovarioleucodystrophy 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 leucodystrophy Associated morphology True Dystrophy Inferred relationship Some 2
Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome Associated morphology True Dystrophy Inferred relationship Some 2
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome Associated morphology True Dystrophy Inferred relationship Some 3
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome Associated morphology True Dystrophy Inferred relationship Some 1
Adenylosuccinate synthetase-like 1-related distal myopathy 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 Associated morphology True Dystrophy Inferred relationship Some 1
Proximal myotonic myopathy Associated morphology True Dystrophy Inferred relationship Some 1
BVES-related limb girdle muscular dystrophy 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 leucodystrophy 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
PPARG-related familial partial lipodystrophy 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 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 leucodystrophy Associated morphology True Dystrophy Inferred relationship Some 2
Sagliker syndrome Associated morphology True Dystrophy Inferred relationship Some 1
Incomplete achromatopsia Associated morphology True Dystrophy Inferred relationship Some 1
Dystrophy of multiple endocrine glands Associated morphology True Dystrophy Inferred relationship Some 1
Renal osteodystrophy due to hyperparathyroidism Associated morphology True Dystrophy Inferred relationship Some 1
Progressive scapulohumeroperoneal distal myopathy Associated morphology True Dystrophy Inferred relationship Some 1
NKX6-2-related autosomal recessive hypomyelinating leucodystrophy Associated morphology True Dystrophy Inferred relationship Some 2
Keppen Lubinsky syndrome 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 leucodystrophy with peripheral neuropathy Associated morphology True Dystrophy Inferred relationship Some 2
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 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 Associated morphology True Dystrophy Inferred relationship Some 5
Bilateral dystrophy of posterior surface of cornea of eyes Associated morphology True Dystrophy Inferred relationship Some 1
Bilateral dystrophy of posterior surface of cornea of eyes Associated morphology True Dystrophy Inferred relationship Some 2
Bilateral hereditary dystrophy of cornea of eyes Associated morphology True Dystrophy Inferred relationship Some 1
Bilateral hereditary dystrophy of cornea of eyes Associated morphology True Dystrophy Inferred relationship Some 2
Bilateral dystrophy of anterior surface of cornea of eyes Associated morphology True Dystrophy Inferred relationship Some 1
Bilateral dystrophy of anterior surface of cornea of eyes Associated morphology True Dystrophy Inferred relationship Some 2
Bilateral macular dystrophy of substantia propria of cornea of eyes Associated morphology True Dystrophy Inferred relationship Some 1
Bilateral macular dystrophy of substantia propria of cornea of eyes Associated morphology True Dystrophy Inferred relationship Some 2
Bilateral stromal dystrophy of substantia propria of cornea of eyes Associated morphology True Dystrophy Inferred relationship Some 1
Bilateral stromal dystrophy of substantia propria of cornea of eyes Associated morphology True Dystrophy Inferred relationship Some 2
Bilateral lattice dystrophy of substantia propria of cornea of eyes Associated morphology True Dystrophy Inferred relationship Some 1
Bilateral lattice dystrophy of substantia propria of cornea of eyes 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 Associated morphology True Dystrophy Inferred relationship Some 1
Alkaline ceramidase 3 deficiency Associated morphology True Dystrophy Inferred relationship Some 2
Pitting of nail due to alopecia areata Associated morphology True Dystrophy Inferred relationship Some 1
Nail dystrophy due to epidermolysis bullosa Associated morphology True Dystrophy Inferred relationship Some 1
Juvenile Alexander disease Associated morphology True Dystrophy Inferred relationship Some 2
Infantile Alexander disease Associated morphology True Dystrophy Inferred relationship Some 2
Adult Alexander disease Associated morphology True Dystrophy Inferred relationship Some 2
Best vitelliform macular dystrophy Associated morphology True Dystrophy Inferred relationship Some 2
Membranous lipodystrophy Associated morphology True Dystrophy Inferred relationship Some 2
Median canaliform nail dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Dystrophic cardiomyopathy Associated morphology False Dystrophy Inferred relationship Some 1
Hyperplastic dystrophy Is a True Dystrophy Inferred relationship Some
Pseudohypertrophic dystrophy Is a True Dystrophy Inferred relationship Some
Fuchs' corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Irido-corneo-endothelial syndrome Associated morphology False Dystrophy Inferred relationship Some 1
Polymorphous corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Chandler syndrome Associated morphology False Dystrophy Inferred relationship Some 1
Chondrodystrophy malacia Associated morphology False Dystrophy Inferred relationship Some 3
Chondrodystrophy malacia Associated morphology False Dystrophy Inferred relationship Some 2
Congenital total lipoatrophy Associated morphology False Dystrophy Inferred relationship Some 2
Chondrodystrophy malacia Associated morphology False Dystrophy Inferred relationship Some 2
Distal muscular dystrophy with juvenile onset Associated morphology False Dystrophy Inferred relationship Some 1
Muscular dystrophy with predominantly proximal limb girdle distribution Associated morphology False Dystrophy Inferred relationship Some 1
X-linked muscular dystrophy with limb girdle distribution Associated morphology True Dystrophy Inferred relationship Some 1
X-linked muscular dystrophy with abnormal dystrophin Associated morphology True Dystrophy Inferred relationship Some 1
Intermediate X-linked muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Manifesting female carrier of X-linked muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
X-linked limb girdle muscular dystrophy with normal dystrophin Associated morphology True Dystrophy Inferred relationship Some 1
Ji muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Hereditary myopathy limited to females Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive muscular dystrophy with limb girdle distribution Associated morphology False Dystrophy Inferred relationship Some 1
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein Associated morphology False Dystrophy Inferred relationship Some 1
Severe autosomal recessive muscular dystrophy of childhood - North African type Associated morphology False Dystrophy Inferred relationship Some 1
Autosomal recessive muscular dystrophy with gene located at 15q Associated morphology False Dystrophy Inferred relationship Some 1
Reunion-Indiana Amish type muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1

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