Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function. [ Orphanet:512 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E75.25 (DOID:10581)
  • MESH:D007966 (Orphanet:512)
  • ICD10:E75.2 (Orphanet:512)
  • Orphanet:512 (MONDO:equivalentTo)
  • DOID:10581 (MONDO:equivalentTo)
  • NCIT:C61251 (MONDO:equivalentTo)
  • ICD10:E75.29 (DOID:10581)
  • SCTID:66521008 (MONDO:equivalentTo)
  • UMLS:C0023522 (Orphanet:512)
  • MedDRA:10067609 (Orphanet:512)
Subsets

ordo_disease

abbreviation
MLD [ Orphanet:512 DOID:10581 ]

closeMatch

http://identifiers.org/snomedct/3621006

http://identifiers.org/snomedct/192784006

http://identifiers.org/snomedct/396338004

http://identifiers.org/snomedct/44359008

definition

Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C61251

http://identifiers.org/mesh/D007966

http://purl.obolibrary.org/obo/DOID_10581

http://www.orpha.net/ORDO/Orphanet_512

http://identifiers.org/snomedct/66521008

http://identifiers.org/meddra/10067609

http://linkedlifedata.com/resource/umls/id/C2713319

http://linkedlifedata.com/resource/umls/id/C0023522

http://identifiers.org/mesh/C538597

has exact synonym

MLD

arylsulfatase A deficiency

sulfatide lipoidosis

Scholz cerebral sclerosis

deficiency of cerebroside-sulfatase

id

MONDO:0018868