Terminology Service for NFDI4Health

leukodystrophy

Go to external page http://purl.obolibrary.org/obo/MONDO_0019046


Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems. [ https://rarediseases.org/rare-diseases/leukodystrophy/ ]

Term info

Label

leukodystrophy

Synonyms
  • HLD
  • hypomyelinating leukodystrophy
database cross reference
Subsets

gard_rare, disease_grouping, merged_class, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10024381

comment

Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy'

exactMatch

http://linkedlifedata.com/resource/umls/id/CN228461, http://purl.obolibrary.org/obo/DOID_0060786, http://purl.obolibrary.org/obo/DOID_0050987, http://purl.obolibrary.org/obo/Orphanet_68356, http://identifiers.org/snomedct/192781003, http://purl.obolibrary.org/obo/DOID_10579, https://omim.org/phenotypicSeries/PS312080, http://linkedlifedata.com/resource/umls/id/C0023520, http://purl.obolibrary.org/obo/NCIT_C61253

has related synonym

leukodystrophy, hypomyelinating, hypomyelinating leukoencephalopathy

id

MONDO:0019046

narrowMatch

https://icd.codes/icd10cm/E75.2

see also

https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy

Term relations