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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
784632017 Dystrophy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
8873011 Dystrophy en Synonym (core metadata concept) 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 (morphologic abnormality) est un(e) (attribut) Degenerative abnormality true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
dystrophie musculaire congénitale par déficit en intégrine alpha-7 morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Lipodystrophy NOS morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
dystrophie musculaire congénitale de Walker-Warburg morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital muscular dystrophy Paradas type (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Congenital macular corneal dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Amaurosis hypertrichosis syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Dystrophy of vulva NOS morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Oculotrichodysplasia (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Lipodystrophy, intellectual disability, deafness syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Cleft lip retinopathy syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Bethlem myopathy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
5-amino-4-imidazole carboxamide ribosiduria (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Ossification anomaly with psychomotor developmental delay syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Epidermolysis bullosa simplex with muscular dystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
syndrome neurodégénératif sévère avec lipodystrophie morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Progressive retinal dystrophy due to retinol transport defect (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
X-linked myopathy with postural muscle atrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
dystrophie rétinienne avec anomalies de la couche nucléaire interne et des cellules ganglionnaires morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 4
Right cervical sympathetic dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Left cervical sympathetic dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Nail dystrophy due to Darier's disease (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Deafness with onychodystrophy syndrome morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Distal myopathy with anterior tibial onset morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Distal anoctaminopathy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital muscular dystrophy with cerebellar involvement morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital muscular dystrophy with intellectual disability morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital muscular dystrophy without intellectual disability (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant limb girdle muscular dystrophy type 1C (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant limb girdle muscular dystrophy type 1G (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant limb girdle muscular dystrophy type 1D (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant limb girdle muscular dystrophy type 1F (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant limb girdle muscular dystrophy type 1E (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Duchenne muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Adult-onset distal myopathy due to valosin containing protein mutation (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Early onset myopathy with fatal cardiomyopathy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2U morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Perilipin 1 related familial partial lipodystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
X-linked scapuloperoneal muscular dystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital muscular dystrophy type 1A morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Muscle eye brain disease with bilateral multicystic leukodystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Muscle eye brain disease with bilateral multicystic leukodystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Panniculitis induced localized lipodystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
AGel amyloidosis morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Distal nebulin myopathy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Congenital muscular dystrophy with intellectual disability and severe epilepsy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Severe autosomal recessive muscular dystrophy of childhood - North African type morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Nail dystrophy co-occurrent with reactive arthritis triad (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 4
Neuroaxonal leukodystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital stationary night blindness morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Dominant drusen morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Macular retinoschisis morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Macular and peripheral retinoschisis morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Macular and peripheral retinoschisis morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 4
Galactocerebroside beta-galactosidase deficiency - early onset morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Saldino-Mainzer dysplasia morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
syndrome de François morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Hyaline dystrophy of Bruch's membrane morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
achromatopsie (trouble) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Retinohepatoendocrinologic syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Localised lipodystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Nail dystrophy due to eczema (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Complete achromatopsia morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Blue cone monochromatism (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Cogan-Reese syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 3
Renal dysplasia and retinal aplasia morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Nail dystrophy due to cytotoxic therapy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
lipoatrophie et lipodystrophie morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Pelizaeus Merzbacher like disease due to HSPD1 mutation morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Pelizaeus Merzbacher like disease due to AIMP1 mutation (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Iridocorneal endothelial syndrome of bilateral eyes (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Iridocorneal endothelial syndrome of bilateral eyes (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Iridocorneal endothelial syndrome of left eye (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Iridocorneal endothelial syndrome of right eye (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Bilateral fundus flavimaculatus of eyes morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Bilateral fundus flavimaculatus of eyes morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital muscular dystrophy type 1D large gene mutation (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Renal osteodystrophy with high bone turnover morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Renal osteodystrophy with normal bone turnover (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Renal osteodystrophy with low bone turnover (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Pelizaeus-Merzbacher disease null syndrome morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 2
Congenital dystrophy of cornea (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1

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