juvenile neuronal ceroid lipofuscinosis - CISMeF

CISMeF

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Juvenile neuronal ceroid lipofuscinosisSNOMED Notion

Preferred Label : juvenile neuronal ceroid lipofuscinosis;

Details

Origin ID

D6-77140;

UMLS CUI

C0751383;

Automatic exact mappings (from CISMeF team)
- CLN3 lysosomal/endosomal transmembrane protein, battenin [ORDO Gene]
- CLN3 lysosomal/endosomal transmembrane protein, battenin [HGNC gene]
- Neuronal ceroid lipofuscinosis [ICD-10 Sub-category (who)]
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
Currated CISMeF NLP mapping
- Batten disease [Disease (Nov.)]
- Batten disease [DO Concept]
- Batten's disease [MedDRA LLT]
- Batten's syndrome [MedDRA LLT]
- Ceroid lipofuscinosis, neuronal, 3 [OMIM Phenotype]
- Juvenile neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
- Juvenile neuronal ceroid lipofuscinosis [MedDRA LLT]
- Juvenile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Neuronal Ceroid Lipofuscinosis Type 3 [NCIt concept]
- Spielmeyer-Vogt disease [PASCAL descriptor]
- Vogt-Spielmeyer disease [MedDRA LLT]
- juvenile neuronal ceroid lipofuscinosis [MeSH concept]
- neuronal ceroid lipofuscinosis 3 [DO Concept]
ICD-10 exact mapping(s)
- Neuronal ceroid lipofuscinosis [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- cerolipoid [SNOMED Notion]
SNOMED CT concept
- Juvenile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Batten disease [Disease (Nov.)]
- Batten disease [DO Concept]
- Batten's disease [MedDRA LLT]
- Batten's syndrome [MedDRA LLT]
- Ceroid lipofuscinosis, neuronal, 3 [OMIM Phenotype]
- Juvenile neuronal ceroid lipofuscinosis [MedDRA LLT]
- Juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
- Juvenile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Neuronal Ceroid Lipofuscinosis Type 3 [NCIt concept]
- Spielmeyer-Vogt disease [PASCAL descriptor]
- Vogt-Spielmeyer disease [MedDRA LLT]
- juvenile neuronal ceroid lipofuscinosis [MeSH concept]
- neuronal ceroid lipofuscinosis 3 [DO Concept]
Validated automatic mappings to NTBT
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]

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18/05/2024

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