FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
Oligocone trichromacy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Ossification anomaly with psychomotor developmental delay syndrome (disorder) Associated morphology False Dystrophy Inferred relationship Some 3
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Associated morphology False Dystrophy Inferred relationship Some 7
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Associated morphology False Dystrophy Inferred relationship Some 2
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 6
Stern Lubinsky Durrie syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 3
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 3
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 3
X-linked spastic paraplegia type 2 (disorder) Associated morphology False Dystrophy Inferred relationship Some 6
X-linked spastic paraplegia type 2 (disorder) Associated morphology True Dystrophy Inferred relationship Some 5
Reticular dystrophy of retinal pigment epithelium (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Subepithelial mucinous corneal dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive bestrophinopathy Associated morphology True Dystrophy Inferred relationship Some 1
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) Associated morphology False Dystrophy Inferred relationship Some 5
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 4
Retinohepatoendocrinologic syndrome (disorder) Associated morphology False Dystrophy Inferred relationship Some 4
Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Familial partial lipodystrophy Kobberling type (disorder) Associated morphology True Dystrophy Inferred relationship Some 4
Autosomal recessive limb girdle muscular dystrophy type 2J (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2O (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Lisch epithelial corneal dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Lipodystrophy due to peptidic growth factors deficiency (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) Associated morphology True Dystrophy Inferred relationship Some 4
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) Associated morphology False Dystrophy Inferred relationship Some 6
Aland Islands eye disease (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
5-amino-4-imidazole carboxamide ribosiduria (disorder) Associated morphology False Dystrophy Inferred relationship Some 2
Congenital muscular dystrophy Paradas type (disorder) Associated morphology False Dystrophy Inferred relationship Some 2
Distal muscular dystrophy with juvenile onset Associated morphology True Dystrophy Inferred relationship Some 2
Distal myopathy 2 Associated morphology True Dystrophy Inferred relationship Some 1
Butterfly-shaped pigmentary macular dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Genetic lipodystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) Associated morphology False Dystrophy Inferred relationship Some 5
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) Associated morphology True Dystrophy Inferred relationship Some 6
Distal myopathy Welander type (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Autosomal recessive limb girdle muscular dystrophy type 2P (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2Q (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2L (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2N (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2M (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Cleft lip retinopathy syndrome (disorder) Associated morphology False Dystrophy Inferred relationship Some 4
Autosomal recessive limb girdle muscular dystrophy type 2S (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2T (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive limb girdle muscular dystrophy type 2R Associated morphology False Dystrophy Inferred relationship Some 1
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) Associated morphology True Dystrophy Inferred relationship Some 4
Dermatoleukodystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome Associated morphology True Dystrophy Inferred relationship Some 3
Distal myopathy with posterior leg and anterior hand involvement (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Distal myopathy with early respiratory muscle involvement Associated morphology False Dystrophy Inferred relationship Some 2
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 4
Francois syndrome Associated morphology False Dystrophy Inferred relationship Some 1
Francois syndrome Associated morphology True Dystrophy Inferred relationship Some 2
Best vitelliform macular dystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
Finnish upper limb onset distal myopathy Associated morphology True Dystrophy Inferred relationship Some 2
KLHL9-related early-onset distal myopathy Associated morphology True Dystrophy Inferred relationship Some 2
Oculopharyngodistal myopathy (disorder) Associated morphology True Dystrophy Inferred relationship Some 4
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 3
Fundus albipunctatus Associated morphology True Dystrophy Inferred relationship Some 1
Laing early-onset distal myopathy Associated morphology True Dystrophy Inferred relationship Some 2
Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
KLHL9-related early-onset distal myopathy Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Congenital muscular dystrophy type 1B Associated morphology True Dystrophy Inferred relationship Some 1
Finnish upper limb onset distal myopathy Associated morphology True Dystrophy Inferred relationship Some 1
Congenital muscular dystrophy with hyperlaxity (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Laing early-onset distal myopathy Associated morphology True Dystrophy Inferred relationship Some 1
Oculopharyngodistal myopathy (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier Associated morphology True Dystrophy Inferred relationship Some 1
Kandori fleck retina syndrome Associated morphology False Dystrophy Inferred relationship Some 1
Alstrom syndrome Associated morphology True Dystrophy Inferred relationship Some 1
Leucodystrophy without a known biochemical basis Associated morphology False Dystrophy Inferred relationship Some 2
HSMN IV Associated morphology True Dystrophy Inferred relationship Some 3
Leucodystrophy Associated morphology True Dystrophy Inferred relationship Some 2
Galactosylceramide beta-galactosidase deficiency Associated morphology True Dystrophy Inferred relationship Some 2
RNA polymerase III-related leukodystrophy Associated morphology True Dystrophy Inferred relationship Some 2
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Associated morphology True Dystrophy Inferred relationship Some 3
Progressive encephalopathy with severe infantile anorexia (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
TUBB4A-related leukodystrophy Associated morphology True Dystrophy Inferred relationship Some 2
Pelizaeus Merzbacher like disease (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Cerebroretinal vasculopathy Associated morphology False Dystrophy Inferred relationship Some 2
Dermatoleukodystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Pelizaeus-Merzbacher disease (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Type III transitional Pelizaeus-Merzbacher disease Associated morphology True Dystrophy Inferred relationship Some 2
Pelizaeus-Merzbacher disease, classic form Associated morphology True Dystrophy Inferred relationship Some 2
Pelizaeus-Merzbacher disease, connatal variant (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Type V atypical Pelizaeus-Merzbacher disease Associated morphology True Dystrophy Inferred relationship Some 2
Type IV adult Pelizaeus-Merzbacher disease Associated morphology True Dystrophy Inferred relationship Some 2
Type VI Cockayne Pelizaeus-Merzbacher disease Associated morphology True Dystrophy Inferred relationship Some 2
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Fundus pulverulentus (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Retinal macular dystrophy type 2 Associated morphology True Dystrophy Inferred relationship Some 1
Kandori fleck retina syndrome Associated morphology True Dystrophy Inferred relationship Some 2
Benign concentric annular macular dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Occult macular dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Familial benign flecked retina Associated morphology True Dystrophy Inferred relationship Some 1
Distal myopathy with posterior leg and anterior hand involvement (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Adult-onset distal myopathy due to valosin containing protein mutation (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Distal myopathy with early respiratory muscle involvement Associated morphology False Dystrophy Inferred relationship Some 1
Tibial muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Distal myopathy Welander type (disorder) Associated morphology True Dystrophy Inferred relationship Some 1

Start Previous Page 6 of 9 Next End

This concept is not in any reference sets

Back to Start