Neuronal ceroid lipofuscinosis

Preferred Label : Neuronal ceroid lipofuscinosis;

Inclusion CIM-10 : Kufs disease; Bielschowsky-Jansky disease; Batten disease; Spielmeyer-Vogt disease;

Diag associé à un acte (%) : 81.8;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

E754;

UMLS CUI

C0027877;

Automatic exact mappings (from CISMeF team)
- Adult neuronal ceroid lipofuscinosis [ORDO Disease]
- Adult neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Batten's disease [MedDRA LLT]
- Ceroid lipofuscinosis, neuronal, 3 [OMIM Phenotype]
- Juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
- Juvenile neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Juvenile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Kufs disease [MedDRA LLT]
- Kufs disease [PASCAL descriptor]
- Late-infantile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Spielmeyer-Vogt disease [PASCAL descriptor]
- neuronal ceroid lipofuscinosis 3 [DO Concept]
Currated CISMeF NLP mapping
- Neuronal Ceroid Lipofuscinosis [NCIt concept]
- Neuronal ceroid lipofuscinosis [ORDO Disease]
- Neuronal ceroid lipofuscinosis [PASCAL descriptor]
- Neuronal ceroid lipofuscinosis [MedDRA Preferred Term]
- Neuronal ceroid lipofuscinosis [ICD-10 Sub-category (who)]
- Neuronal ceroid lipofuscinosis [ICD-11 Subcategory]
- Neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Neuronal ceroid lipofuscinosis NOS [MedDRA LLT]
- neuronal Ceroid-Lipofuscinoses [MeSH concept]
- neuronal ceroid lipofuscinosis [Disease (Nov.)]
- neuronal ceroid lipofuscinosis [SNOMED Notion]
- neuronal ceroid lipofuscinosis [DO Concept]
- neuronal ceroid lipofuscinosis [Error of metabolism category]
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
DO Cross reference
- neuronal ceroid lipofuscinosis [DO Concept]
- neuronal ceroid lipofuscinosis 1 [DO Concept]
- neuronal ceroid lipofuscinosis 10 [DO Concept]
- neuronal ceroid lipofuscinosis 11 [DO Concept]
- neuronal ceroid lipofuscinosis 13 [DO Concept]
- neuronal ceroid lipofuscinosis 2 [DO Concept]
- neuronal ceroid lipofuscinosis 3 [DO Concept]
- neuronal ceroid lipofuscinosis 4A [DO Concept]
- neuronal ceroid lipofuscinosis 4B [DO Concept]
- neuronal ceroid lipofuscinosis 5 [DO Concept]
- neuronal ceroid lipofuscinosis 6 [DO Concept]
- neuronal ceroid lipofuscinosis 7 [DO Concept]
- neuronal ceroid lipofuscinosis 8 [DO Concept]
- neuronal ceroid lipofuscinosis 8 northern epilepsy variant [DO Concept]
- neuronal ceroid lipofuscinosis 9 [DO Concept]
Manual NTBT mappings (CISMeF)
- Congenital neuronal ceroid lipofuscinosis [ORDO Disease]
- Progressive epilepsy-intellectual disability syndrome, Finnish type [ORDO Disease]
Orphanet concepts
- ATP13A2-related juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
- Adult neuronal ceroid lipofuscinosis [ORDO Disease]
- CLN1 disease [ORDO Disease]
- CLN10 disease [ORDO Disease]
- CLN11 disease [ORDO Disease]
- CLN13 disease [ORDO Disease]
- CLN2 disease [ORDO Disease]
- CLN3 disease [ORDO Disease]
- CLN4A disease [ORDO Disease]
- CLN4B disease [ORDO Disease]
- CLN5 disease [ORDO Disease]
- CLN6 disease [ORDO Disease]
- CLN7 disease [ORDO Disease]
- CLN8 disease [ORDO Disease]
- CLN9 disease [ORDO Disease]
- Congenital neuronal ceroid lipofuscinosis [ORDO Disease]
- Infantile neuronal ceroid lipofuscinosis [ORDO Disease]
- Juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
- Late infantile neuronal ceroid lipofuscinosis [ORDO Disease]
- Neuronal ceroid lipofuscinosis [ORDO Disease]
- Progressive epilepsy-intellectual disability syndrome, Finnish type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ceroid storage disease [OMIM Phenotype]
- Neuronal Ceroid Lipofuscinosis [NCIt concept]
- Neuronal ceroid lipofuscinosis [MedDRA Preferred Term]
- Neuronal ceroid lipofuscinosis [ORDO Disease]
- Neuronal ceroid lipofuscinosis [PASCAL descriptor]
- Neuronal ceroid lipofuscinosis [ICD-11 Subcategory]
- Neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Neuronal ceroid lipofuscinosis NOS [MedDRA LLT]
- neuronal Ceroid-Lipofuscinoses [MeSH concept]
- neuronal ceroid lipofuscinosis [SNOMED Notion]
- neuronal ceroid lipofuscinosis [DO Concept]
- neuronal ceroid lipofuscinosis [Disease (Nov.)]
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
Validated automatic mappings to BTNT
- Adult neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Neuronal Ceroid Lipofuscinosis Type 3 [NCIt concept]
- neuronal ceroid lipofuscinosis 10 [DO Concept]
- neuronal ceroid lipofuscinosis 2 [DO Concept]
Validated automatic mappings to NTBT
- neuronal ceroid lipofuscinosis 4B [DO Concept]

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