Other sphingolipidosis

Preferred Label : Other sphingolipidosis;

ICD-10 exclusion note : adrenoleukodystrophy [Addison-Schilder] (E71.528);

Diag associé à un acte (%) : 41.1;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

E752;

UMLS CUI

C0348489;

Automatic exact mappings (from CISMeF team)
- Gaucher Disease [NCIt concept]
- Niemann-Pick Disease [NCIt concept]
- arylsulfatase A deficiency [MeSH concept]
- gaucher disease [MeSH Descriptor]
- gaucher disease [MeSH concept]
- leukodystrophy, metachromatic [MeSH Descriptor]
- leukodystrophy, metachromatic [MeSH concept]
- niemann-pick diseases [MeSH Descriptor]
Currated CISMeF NLP mapping
- Krabbe Disease [NCIt concept]
- Krabbe disease [ORDO Disease]
- Krabbe disease [OMIM Phenotype]
- Krabbe's disease [MedDRA Preferred Term]
- globoid cell leukodystrophy, early onset [SNOMED Notion]
- leukodystrophy, globoid cell [MeSH Descriptor]
- leukodystrophy, globoid cell [MeSH concept]
DO Cross reference
- Gaucher's disease perinatal lethal [DO Concept]
- Gaucher's disease type I [DO Concept]
- Gaucher's disease type II [DO Concept]
- Gaucher's disease type III [DO Concept]
- Niemann-Pick disease type A [DO Concept]
- Niemann-Pick disease type B [DO Concept]
- Niemann-Pick disease type C1 [DO Concept]
- Niemann-Pick disease type C2 [DO Concept]
- PCWH syndrome [DO Concept]
- atypical Gaucher's disease due to saposin c deficiency [DO Concept]
- hypomyelinating leukodystrophy 2 [DO Concept]
- hypomyelinating leukodystrophy 3 [DO Concept]
- hypomyelinating leukodystrophy 4 [DO Concept]
- hypomyelinating leukodystrophy 6 [DO Concept]
- hypomyelinating leukodystrophy 9 [DO Concept]
- leukoencephalopathy with vanishing white matter [DO Concept]
Excluded by
- Disorders of lipoprotein metabolism and other lipidemias [ICD-10 category]
ICD-10 exclusion(s)
- Disorders of fatty-acid metabolism [ICD-10 Sub-category]
Manual NTBT mappings (CISMeF)
- Adult Krabbe disease [ORDO Disease]
- Encephalopathy due to prosaposin deficiency [ORDO Disease]
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome [ORDO Disease]
- Infantile Krabbe disease [ORDO Disease]
- Late-infantile/juvenile Krabbe disease [ORDO Disease]
Orphanet concepts
- Adult Krabbe disease [ORDO Disease]
- Adult-onset autosomal dominant leukodystrophy [ORDO Disease]
- Alexander disease [ORDO Disease]
- Alexander disease type I [ORDO Disease]
- Alexander disease type II [ORDO Disease]
- Alkaline ceramidase 3 deficiency [ORDO Disease]
- Atypical Gaucher disease due to saposin C deficiency [ORDO Disease]
- C11ORF73-related autosomal recessive hypomyelinating leukodystrophy [ORDO Disease]
- CACH syndrome [ORDO Disease]
- Canavan disease [ORDO Disease]
- Chronic visceral acid sphingomyelinase deficiency [ORDO Disease]
- Congenital or early infantile CACH syndrome [ORDO Disease]
- Cree leukoencephalopathy [ORDO Disease]
- Cystic leukoencephalopathy without megalencephaly [ORDO Disease]
- Dermatoleukodystrophy [ORDO Disease]
- Encephalopathy due to prosaposin deficiency [ORDO Disease]
- Fabry disease [ORDO Disease]
- Farber disease [ORDO Disease]
- Fetal Gaucher disease [ORDO Disease]
- Gaucher disease [ORDO Disease]
- Gaucher disease type 1 [ORDO Disease]
- Gaucher disease type 2 [ORDO Disease]
- Gaucher disease type 3 [ORDO Disease]
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome [ORDO Disease]
- Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia [ORDO Disease]
- Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome [ORDO Disease]
- Hypomyelination with atrophy of basal ganglia and cerebellum [ORDO Disease]
- Hypomyelination with brain stem and spinal cord involvement and leg spasticity [ORDO Disease]
- Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome [ORDO Disease]
- Infantile Krabbe disease [ORDO Disease]
- Infantile neurovisceral acid sphingomyelinase deficiency [ORDO Disease]
- Juvenile or adult CACH syndrome [ORDO Disease]
- Krabbe disease [ORDO Disease]
- Late infantile CACH syndrome [ORDO Disease]
- Late-infantile/juvenile Krabbe disease [ORDO Disease]
- Leukodystrophy [ORDO Disease]
- Leukoencephalopathy with bilateral anterior temporal lobe cysts [ORDO Disease]
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [ORDO Disease]
- Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ORDO Disease]
- Leukoencephalopathy-dystonia-motor neuropathy syndrome [ORDO Disease]
- Megalencephalic leukoencephalopathy with subcortical cysts [ORDO Disease]
- Metachromatic leukodystrophy [ORDO Disease]
- Metachromatic leukodystrophy, adult form [ORDO Disease]
- Metachromatic leukodystrophy, juvenile form [ORDO Disease]
- Metachromatic leukodystrophy, late infantile form [ORDO Disease]
- Mild Canavan disease [ORDO Disease]
- Multiple sulfatase deficiency [ORDO Disease]
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy [ORDO Disease]
- Nasu-Hakola disease [ORDO Disease]
- Niemann-Pick disease type C [ORDO Disease]
- Niemann-Pick disease type C, adult neurologic onset [ORDO Disease]
- Niemann-Pick disease type C, juvenile neurologic onset [ORDO Disease]
- Niemann-Pick disease type C, late infantile neurologic onset [ORDO Disease]
- Niemann-Pick disease type C, severe early infantile neurologic onset [ORDO Disease]
- Niemann-Pick disease type C, severe perinatal form [ORDO Disease]
- Niemann-Pick disease type E [ORDO Disease]
- Null syndrome [ORDO Disease]
- Odontoleukodystrophy [ORDO Disease]
- Ovarioleukodystrophy [ORDO Disease]
- Pelizaeus-Merzbacher disease [ORDO Disease]
- Pelizaeus-Merzbacher disease in female carriers [ORDO Disease]
- Pelizaeus-Merzbacher disease, classic form [ORDO Disease]
- Pelizaeus-Merzbacher disease, connatal form [ORDO Disease]
- Pelizaeus-Merzbacher disease, transitional form [ORDO Disease]
- Pelizaeus-Merzbacher-like disease [ORDO Disease]
- Pelizaeus-Merzbacher-like disease due to AIMP1 mutation [ORDO Disease]
- Pelizaeus-Merzbacher-like disease due to GJC2 mutation [ORDO Disease]
- Pelizaeus-Merzbacher-like disease due to HSPD1 mutation [ORDO Disease]
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease [ORDO Disease]
- Progressive cavitating leukoencephalopathy [ORDO Disease]
- Pseudoarylsulfatase A deficiency [ORDO Disease]
- RARS-related autosomal recessive hypomyelinating leukodystrophy [ORDO Disease]
- Ravine syndrome [ORDO Disease]
- Severe Canavan disease [ORDO Disease]
- Sphingolipidosis [ORDO Disease]
- Tremor-ataxia-central hypomyelination syndrome [ORDO Disease]
- Unknown leukodystrophy [ORDO Disease]
- VPS11-related autosomal recessive hypomyelinating leukodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Other Sphingolipidosis [NCIt concept]
Validated automatic mappings to BTNT
- Fetal Gaucher disease [ORDO Disease]
- Krabbe disease [Disease (Nov.)]
- Metachromatic Leukodystrophy [NCIt concept]
- Niemann-Pick disease type A [DO Concept]
- Niemann-Pick disease type B [DO Concept]
- hypomyelinating leukodystrophy 2 [DO Concept]
- hypomyelinating leukodystrophy 4 [DO Concept]
- hypomyelinating leukodystrophy 6 [DO Concept]
- hypomyelinating leukodystrophy 9 [DO Concept]

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