Congenital neuronal ceroid lipofuscinosis

Preferred Label : Congenital neuronal ceroid lipofuscinosis;

ICD-11 definition : Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.;

ICD-11 synonym : Congenital NCL; Congenital NCL - [neuronal ceroid lipofuscinosis]; neuronal ceroid lipofuscinosis;

Details

Origin ID

641209188;

UMLS CUI

C1864669;

Automatic exact mappings (from CISMeF team)
- Neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Congenital neuronal ceroid lipofuscinosis [ORDO Disease]
- Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) [SNOMED CT concept]
- neuronal ceroid lipofuscinosis, congenital [MeSH concept]
See also inter- (CISMeF)
- CLN10 disease [ORDO Disease]
- Ceroid lipofuscinosis, neuronal, 10 [OMIM Phenotype]
- Deficiency of cathepsin D (disorder) [SNOMED CT concept]
- cathepsin D deficiency [Disease (Nov.)]
- ceroid lipofuscinosis, neuronal, 10 [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal, 10 [MeSH concept]
- neuronal ceroid lipofuscinosis 10 [DO Concept]
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]

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