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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
Distal myopathy Welander type (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Congenital muscular dystrophy due to lamin A/C mutation (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal dominant limb-girdle muscular dystrophy type 1H Associated morphology True Dystrophy Inferred relationship Some 1
Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Walker-Warburg congenital muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Congenital muscular dystrophy Paradas type (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 3
Congenital macular corneal dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Amaurosis hypertrichosis syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Oculotrichodysplasia (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Lipodystrophy, intellectual disability, deafness syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Cleft lip retinopathy syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 3
Bethlem myopathy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
5-amino-4-imidazole carboxamide ribosiduria (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 3
Ossification anomaly with psychomotor developmental delay syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Associated morphology False Dystrophy Inferred relationship Some 2
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Severe neurodegenerative syndrome with lipodystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Associated morphology True Dystrophy Inferred relationship Some 3
Progressive retinal dystrophy due to retinol transport defect (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 3
X-linked myopathy with postural muscle atrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Associated morphology True Dystrophy Inferred relationship Some 1
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome Associated morphology True Dystrophy Inferred relationship Some 4
Right cervical sympathetic dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Left cervical sympathetic dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Nail dystrophy due to Darier's disease (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Deafness with onychodystrophy syndrome Associated morphology True Dystrophy Inferred relationship Some 3
Distal myopathy with anterior tibial onset Associated morphology True Dystrophy Inferred relationship Some 1
Distal anoctaminopathy Associated morphology True Dystrophy Inferred relationship Some 1
Congenital muscular dystrophy with cerebellar involvement Associated morphology True Dystrophy Inferred relationship Some 1
Congenital muscular dystrophy with intellectual disability Associated morphology True Dystrophy Inferred relationship Some 1
Congenital muscular dystrophy without intellectual disability (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal dominant limb girdle muscular dystrophy type 1C Associated morphology False Dystrophy Inferred relationship Some 1
Autosomal dominant limb girdle muscular dystrophy type 1G (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal dominant limb girdle muscular dystrophy type 1D (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal dominant limb girdle muscular dystrophy type 1F (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal dominant limb girdle muscular dystrophy type 1E (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Duchenne muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Adult-onset distal myopathy due to valosin containing protein mutation (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Early onset myopathy with fatal cardiomyopathy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2U Associated morphology True Dystrophy Inferred relationship Some 1
Perilipin 1 related familial partial lipodystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
X-linked scapuloperoneal muscular dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Congenital muscular dystrophy type 1A Associated morphology True Dystrophy Inferred relationship Some 1
Muscle eye brain disease with bilateral multicystic leukodystrophy Associated morphology True Dystrophy Inferred relationship Some 3
Muscle eye brain disease with bilateral multicystic leukodystrophy Associated morphology True Dystrophy Inferred relationship Some 2
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Panniculitis induced localized lipodystrophy Associated morphology True Dystrophy Inferred relationship Some 2
AGel amyloidosis Associated morphology True Dystrophy Inferred relationship Some 1
Distal nebulin myopathy Associated morphology True Dystrophy Inferred relationship Some 2
Congenital muscular dystrophy with intellectual disability and severe epilepsy Associated morphology True Dystrophy Inferred relationship Some 1
Severe autosomal recessive muscular dystrophy of childhood - North African type Associated morphology False Dystrophy Inferred relationship Some 2
Nail dystrophy co-occurrent with reactive arthritis triad (disorder) Associated morphology True Dystrophy Inferred relationship Some 4
Neuroaxonal leukodystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Congenital stationary night blindness Associated morphology True Dystrophy Inferred relationship Some 1
Dominant drusen Associated morphology True Dystrophy Inferred relationship Some 2
Macular retinoschisis Associated morphology True Dystrophy Inferred relationship Some 2
Macular and peripheral retinoschisis Associated morphology True Dystrophy Inferred relationship Some 3
Macular and peripheral retinoschisis Associated morphology True Dystrophy Inferred relationship Some 4
Galactocerebroside beta-galactosidase deficiency - early onset Associated morphology True Dystrophy Inferred relationship Some 2
Saldino-Mainzer dysplasia Associated morphology True Dystrophy Inferred relationship Some 1
Francois syndrome Associated morphology True Dystrophy Inferred relationship Some 3
Hyaline dystrophy of Bruch's membrane Associated morphology True Dystrophy Inferred relationship Some 2
Achromatopsia Associated morphology True Dystrophy Inferred relationship Some 1
Retinohepatoendocrinologic syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Localised lipodystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Nail dystrophy due to eczema (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Complete achromatopsia Associated morphology True Dystrophy Inferred relationship Some 1
Blue cone monochromatism (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Cogan-Reese syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 3
Renal dysplasia and retinal aplasia Associated morphology True Dystrophy Inferred relationship Some 2
Nail dystrophy due to cytotoxic therapy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Lipoatrophy and lipodystrophy Associated morphology True Dystrophy Inferred relationship Some 2
Pelizaeus Merzbacher like disease due to HSPD1 mutation Associated morphology True Dystrophy Inferred relationship Some 1
Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Pelizaeus Merzbacher like disease due to AIMP1 mutation (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Iridocorneal endothelial syndrome of bilateral eyes (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Iridocorneal endothelial syndrome of bilateral eyes (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Iridocorneal endothelial syndrome of left eye (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Iridocorneal endothelial syndrome of right eye (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Bilateral fundus flavimaculatus of eyes Associated morphology True Dystrophy Inferred relationship Some 1
Bilateral fundus flavimaculatus of eyes Associated morphology True Dystrophy Inferred relationship Some 2
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Congenital muscular dystrophy type 1D large gene mutation (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Renal osteodystrophy with high bone turnover Associated morphology True Dystrophy Inferred relationship Some 1
Renal osteodystrophy with normal bone turnover (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Renal osteodystrophy with low bone turnover (disorder) Associated morphology True Dystrophy Inferred relationship Some 1

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