Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD). [ Orphanet:834 ]
Term information
- ICD10:E77.8 (Orphanet:834)
- MESH:C538523 (Orphanet:834)
- MedDRA:10067531 (Orphanet:834)
- UMLS:CN206051 (MONDO:equivalentTo)
- Orphanet:834 (MONDO:equivalentTo)
- MedDRA:10067529 (Orphanet:834)
- GARD:0010870 (Orphanet-shared)
- UMLS:C2931872 (Orphanet:834)
ordo_disease
Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).
http://www.orpha.net/ORDO/Orphanet_834
http://identifiers.org/meddra/10067531
http://linkedlifedata.com/resource/umls/id/C2931872
http://linkedlifedata.com/resource/umls/id/CN206051
http://identifiers.org/mesh/C538523
http://identifiers.org/meddra/10067529