Neuronal ceroid lipofuscinosis type 10

Preferred Label : Neuronal ceroid lipofuscinosis type 10;

ICD-11 synonym : Cathepsin D deficiency; CLN10 disease;

Origin ID

1956939722;

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]
- cathepsin D deficiency [Disease (Nov.)]
- ceroid lipofuscinosis, neuronal, 10 [MeSH concept]
- ceroid lipofuscinosis, neuronal, 10 [MeSH Supplementary Concept]
- neuronal ceroid lipofuscinosis 10 [DO Concept]
See also inter- (CISMeF)
- Congenital neuronal ceroid lipofuscinosis [ORDO Disease]
- Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) [SNOMED CT concept]
- 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]
- Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) [SNOMED CT concept]
- ceroid lipofuscinosis, neuronal, 10 [MeSH concept]
- ceroid lipofuscinosis, neuronal, 10 [MeSH Supplementary Concept]
- neuronal ceroid lipofuscinosis 10 [DO Concept]