FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

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
Francois syndrome Associated morphology False Dystrophy Inferred relationship Some 1
Francois syndrome Associated morphology True Dystrophy Inferred relationship Some 2
Lichen sclerosus et atrophicus of the vulva Associated morphology False Dystrophy Inferred relationship Some 2
Robinson nail dystrophy-deafness syndrome Associated morphology True Dystrophy Inferred relationship Some 1
Dilated cardiomyopathy due to myotonic dystrophy Associated morphology False Dystrophy Inferred relationship Some
Schwartz-Jampel syndrome Associated morphology False Dystrophy Inferred relationship Some
Morquio syndrome Associated morphology False Dystrophy Inferred relationship Some
Neuronal ceroid lipofuscinosis Associated morphology False Dystrophy Inferred relationship Some
Hepatosis dietetica Associated morphology False Dystrophy Inferred relationship Some
Familial partial lipodystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Complex regional pain syndrome, type I Associated morphology False Dystrophy Inferred relationship Some 1
Dystrophy of vulva Associated morphology False Dystrophy Inferred relationship Some 1
Infantile neuronal ceroid lipofuscinosis Associated morphology False Dystrophy Inferred relationship Some
Juvenile neuronal ceroid lipofuscinosis Associated morphology False Dystrophy Inferred relationship Some
Adult neuronal ceroid lipofuscinosis Associated morphology False Dystrophy Inferred relationship Some
Lipodystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Mucopolysaccharidosis, MPS-IV-A Associated morphology False Dystrophy Inferred relationship Some
Cutis laxa with osteodystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Jeune thoracic dystrophy Associated morphology False Dystrophy Inferred relationship Some
Acquired partial lipodystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Steinert myotonic dystrophy syndrome Associated morphology False Dystrophy Inferred relationship Some 1
Chondrodystrophy malacia Associated morphology False Dystrophy Inferred relationship Some 1
Median nail dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Acquired generalised lipodystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Best vitelliform macular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Finnish upper limb onset distal myopathy Associated morphology True Dystrophy Inferred relationship Some 2
Kelch like family member 9 related early-onset distal myopathy Associated morphology True Dystrophy Inferred relationship Some 2
Oculopharyngodistal myopathy Associated morphology True Dystrophy Inferred relationship Some 4
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome 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 mutation associated retinal dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Kelch like family member 9 related early-onset distal myopathy Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive myogenic arthrogryposis multiplex congenita 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 Associated morphology True Dystrophy Inferred relationship Some 1
Laing early-onset distal myopathy Associated morphology True Dystrophy Inferred relationship Some 1
Oculopharyngodistal myopathy 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
Partial face-sparing lipodystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Leucodystrophy without a known biochemical basis Associated morphology False Dystrophy Inferred relationship Some 2
Phytanic acid storage disease 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 Associated morphology True Dystrophy Inferred relationship Some 3
RAVINE syndrome Associated morphology True Dystrophy Inferred relationship Some 2
Tubulin beta 4A class IVa related leukodystrophy Associated morphology True Dystrophy Inferred relationship Some 2
Pelizaeus Merzbacher like disease 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 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 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 Associated morphology True Dystrophy Inferred relationship Some 1
Fundus pulverulentus 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 Associated morphology True Dystrophy Inferred relationship Some 1
Occult macular dystrophy 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 Associated morphology True Dystrophy Inferred relationship Some 1
Adult-onset distal myopathy due to valosin containing protein mutation 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 Associated morphology True Dystrophy Inferred relationship Some 1
Congenital muscular dystrophy due to LMNA mutation Associated morphology True Dystrophy Inferred relationship Some 1
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal dominant limb-girdle muscular dystrophy type 1H Associated morphology True Dystrophy Inferred relationship Some 1

Start Previous Page 8 of 8

Reference Sets

Body structure foundation reference set

Australian dialect reference set

Back to Start