ceroid lipofuscinosis, neuronal 1, infantile

Preferred Label : ceroid lipofuscinosis, neuronal 1, infantile;

CISMeF synonym : infantile neuronal ceroid lipofuscinosis (INCL);

MeSH synonym : santavuori disease; neuronal ceroid lipofuscinosis, infantile finnish type;

Details

Origin ID

C537948;

UMLS CUI

C2931673;

Automatic exact mappings (from CISMeF team)
- Muscle-eye-brain disease [ORDO Disease]
CISMeF manual mappings
- Infantile neuronal ceroid lipofuscinosis [ORDO Disease]
- infantile neuronal ceroid lipofuscinosis [SNOMED Notion]
Currated CISMeF NLP mapping
- CLN1 disease [ORDO Disease]
- Ceroid lipofuscinosis, neuronal, 1 [OMIM Phenotype]
- Infantile neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Infantile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Neuronal Ceroid Lipofuscinosis Type 1 [NCIt concept]
- infantile neuronal ceroid lipofuscinosis [Disease (Nov.)]
MeSH term(s) associated for indexing
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
ORDO relation(s)
- Infantile neuronal ceroid lipofuscinosis [ORDO Disease]
Record concept(s)
- Ceroid lipofuscinosis, neuronal 1, infantile [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Neuronal Ceroid Lipofuscinosis Type 1 [NCIt concept]
- infantile neuronal ceroid lipofuscinosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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