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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
8874017 Dystrophy, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
8875016 Defective nutrition, NOS en Synonym Inactive Initial character 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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