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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 muscular dystrophy with integrin alpha-7 deficiency Associated morphology True Dystrophy Inferred relationship Some 1
Lipodystrophy NOS Associated morphology False Dystrophy Inferred relationship Some 2
Walker-Warburg congenital muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Congenital myopathy Paradas type Associated morphology True Dystrophy Inferred relationship Some 1
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Associated morphology True Dystrophy Inferred relationship Some 2
DOORS syndrome Associated morphology True Dystrophy Inferred relationship Some 3
Congenital macular corneal dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Amaurosis hypertrichosis syndrome Associated morphology True Dystrophy Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia Associated morphology True Dystrophy Inferred relationship Some 1
Dystrophy of vulva NOS Associated morphology False Dystrophy Inferred relationship Some 1
Oculotrichodysplasia Associated morphology True Dystrophy Inferred relationship Some 1
Lipodystrophy, intellectual disability, deafness syndrome Associated morphology True Dystrophy Inferred relationship Some 2
Cleft lip retinopathy syndrome Associated morphology True Dystrophy Inferred relationship Some 2
Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome Associated morphology True Dystrophy Inferred relationship Some 3
Bethlem myopathy Associated morphology True Dystrophy Inferred relationship Some 1
5-amino-4-imidazole carboxamide ribosiduria Associated morphology True Dystrophy Inferred relationship Some 1
DOORS syndrome Associated morphology True Dystrophy Inferred relationship Some 2
EEM syndrome Associated morphology True Dystrophy Inferred relationship Some 3
Ossification anomaly with psychomotor developmental delay syndrome Associated morphology True Dystrophy Inferred relationship Some 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Associated morphology True Dystrophy Inferred relationship Some 1
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome Associated morphology True Dystrophy Inferred relationship Some 1
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Associated morphology True Dystrophy Inferred relationship Some 2
Epidermolysis bullosa simplex with muscular dystrophy 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 Associated morphology True Dystrophy Inferred relationship Some 1
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome Associated morphology True Dystrophy Inferred relationship Some 3
X-linked myopathy with postural muscle atrophy Associated morphology True Dystrophy Inferred relationship Some 1
Progeroid and marfanoid aspect, lipodystrophy syndrome 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 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 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 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 Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal dominant limb girdle muscular dystrophy type 1D Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal dominant limb girdle muscular dystrophy type 1F Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal dominant limb girdle muscular dystrophy type 1E 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 Associated morphology True Dystrophy Inferred relationship Some 2
Autosomal dominant limb girdle muscular dystrophy type 1A Associated morphology True Dystrophy Inferred relationship Some 1
Early onset myopathy with fatal cardiomyopathy 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 Associated morphology True Dystrophy Inferred relationship Some 1
X-linked scapuloperoneal muscular dystrophy 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 Associated morphology True Dystrophy Inferred relationship Some 1
Panniculitis induced localised 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 Associated morphology True Dystrophy Inferred relationship Some 4
Neuroaxonal leucodystrophy 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 Associated morphology True Dystrophy Inferred relationship Some 2
Localised lipodystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Nail dystrophy due to eczema Associated morphology True Dystrophy Inferred relationship Some 1
Complete achromatopsia Associated morphology True Dystrophy Inferred relationship Some 1
Blue cone monochromatism Associated morphology True Dystrophy Inferred relationship Some 1
Cogan-Reese syndrome 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 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 Associated morphology True Dystrophy Inferred relationship Some 1
Pelizaeus Merzbacher like disease due to AIMP1 mutation Associated morphology True Dystrophy Inferred relationship Some 1
Pelizaeus Merzbacher like disease due to GJC2 mutation Associated morphology True Dystrophy Inferred relationship Some 1
Bilateral iridocorneal endothelial syndrome of eyes Associated morphology True Dystrophy Inferred relationship Some 1
Bilateral iridocorneal endothelial syndrome of eyes Associated morphology True Dystrophy Inferred relationship Some 2
Iridocorneal endothelial syndrome of left eye Associated morphology True Dystrophy Inferred relationship Some 1
Iridocorneal endothelial syndrome of right eye 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 Associated morphology True Dystrophy Inferred relationship Some 1
Congenital muscular dystrophy type 1D large gene mutation 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 Associated morphology True Dystrophy Inferred relationship Some 1
Renal osteodystrophy with low bone turnover Associated morphology True Dystrophy Inferred relationship Some 1
Pelizaeus-Merzbacher disease null syndrome Associated morphology True Dystrophy Inferred relationship Some 2
Congenital corneal dystrophy Associated morphology True Dystrophy Inferred relationship Some 1

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Reference Sets

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