sphingomyelin/cholesterol lipidosis, nos

Preferred Label : sphingomyelin/cholesterol lipidosis, nos;

Details

Origin ID

D6-74000;

UMLS CUI

C0028064;

Automatic exact mappings (from CISMeF team)
- Infantile neurovisceral acid sphingomyelinase deficiency [ORDO Disease]
- Niemann-Pick disease, type A [MeSH Descriptor]
- Niemann-Pick disease, type A [MeSH concept]
- Niemann-pick disease, type a [OMIM Phenotype]
- Other sphingolipidosis [ICD-10 Sub-category (who)]
- Sphingolipidosis [PASCAL descriptor]
- Sphingolipidosis [ICD-11 Subcategory]
- Sphingolipidosis [ORDO Disease]
- Sphingolipidosis (disorder) [SNOMED CT concept]
- Sphingolipidosis, unspecified [ICD-10 Sub-category (who)]
- sphingolipidoses [MeSH Descriptor]
- sphingolipidoses [MeSH concept]
- sphingolipidoses [Error of metabolism category]
- sphingolipidosis [Radlex concept]
- sphingolipidosis [DO Concept]
Currated CISMeF NLP mapping
- Niemann Pick disease [Disease (Nov.)]
- Niemann-Pick Disease [NCIt concept]
- Niemann-Pick disease [PASCAL descriptor]
- Niemann-Pick disease [DO Concept]
- Niemann-Pick disease [ICD-11 More detail]
- Niemann-Pick disease [MedDRA Preferred Term]
- Niemann-Pick diseases [MeSH concept]
- Sphingomyelin lipidosis [MedDRA LLT]
- Sphingomyelin/cholesterol lipidosis (disorder) [SNOMED CT concept]
- niemann-pick diseases [MeSH Descriptor]
ICD-10 exact mapping(s)
- Other sphingolipidosis [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Encephalopathy due to prosaposin deficiency [ORDO Disease]
- Infantile Krabbe disease [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Metabolic disease with macular cherry-red spot [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- sphingomyelin phosphodiesterase [SNOMED Notion]
SNOMED CT concept
- Sphingomyelin/cholesterol lipidosis (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Niemann Pick disease [Disease (Nov.)]
- Niemann-Pick Disease [NCIt concept]
- Niemann-Pick disease [MedDRA Preferred Term]
- Niemann-Pick disease [DO Concept]
- Niemann-Pick disease [PASCAL descriptor]
- Niemann-Pick disease [ICD-11 More detail]
- Niemann-Pick diseases [MeSH concept]
- Sphingomyelin lipidosis [MedDRA LLT]
- Sphingomyelin/cholesterol lipidosis (disorder) [SNOMED CT concept]
- niemann-pick diseases [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

Main resources

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