ceroid lipofuscinosis, neuronal, 10

Preferred Label : ceroid lipofuscinosis, neuronal, 10;

MeSH note : also known as Cln10;

CISMeF synonym : neuronal ceroid lipofuscinosis, congenital;

MeSH synonym : ceroid lipofuscinosis, neuronal, cathepsin D-Deficient; neuronal ceroid lipofuscinosis due to cathepsin D deficiency;

Details

Origin ID

C566438;

UMLS CUI

C1864669;

Currated CISMeF NLP mapping
- CLN10 disease [ORDO Disease]
- Ceroid lipofuscinosis, neuronal, 10 [OMIM Phenotype]
- Deficiency of cathepsin D (disorder) [SNOMED CT concept]
- Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) [SNOMED CT concept]
- Neuronal ceroid lipofuscinosis type 10 [ICD-11 More detail]
- cathepsin D deficiency [Disease (Nov.)]
- neuronal ceroid lipofuscinosis 10 [DO Concept]
MeSH term(s) associated for indexing
- cathepsin d [MeSH Descriptor]
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
Record concept(s)
- ceroid lipofuscinosis, neuronal, 10 [MeSH concept]
- neuronal ceroid lipofuscinosis, congenital [MeSH concept]
See also inter- (CISMeF)
- Congenital neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Congenital neuronal ceroid lipofuscinosis [ORDO Disease]
- Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) [SNOMED CT concept]
- cathepsin D [ORDO Gene]
- cathepsin D deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CLN10 disease [ORDO Disease]
- Ceroid lipofuscinosis, neuronal, 10 [OMIM Phenotype]
- Congenital neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) [SNOMED CT concept]
- Neuronal ceroid lipofuscinosis type 10 [ICD-11 More detail]
- neuronal ceroid lipofuscinosis 10 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients