ceroid lipofuscinosis, neuronal, 6

Preferred Label : ceroid lipofuscinosis, neuronal, 6;

MeSH note : mutation on CLN6 protein, human;

MeSH synonym : neuronal ceroid lipofuscinosis, late infantile, variant; ceroid lipofuscinosis, neuronal, 6, variable age at onset;

Details

Origin ID

C566627;

UMLS CUI

C1866282;

Automatic exact mappings (from CISMeF team)
- Finnish variant of late infantile neuronal ceroid lipofuscinosis [ICD-11 More detail]
Currated CISMeF NLP mapping
- Ceroid lipofuscinosis, neuronal, 6a [OMIM Phenotype]
- neuronal ceroid lipofuscinosis 6 [DO Concept]
MeSH term(s) associated for indexing
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
Record concept(s)
- ceroid lipofuscinosis, neuronal, 6 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CLN6 disease [ORDO Disease]
- Ceroid lipofuscinosis, neuronal, 6a [OMIM Phenotype]
- neuronal ceroid lipofuscinosis 6 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients