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

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