Infantile neuronal ceroid lipofuscinosis

Preferred Label : Infantile neuronal ceroid lipofuscinosis;

ICD-11 definition : Infantile neuronal ceroid lipofuscinosis is a form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.;

ICD-11 synonym : Santavuori disease; Santavuori-Haltia disease; Hagberg-Santavuori disease; Infantile NCL; Lysosomal palmitoyl protein thioesterase deficiency; Infantile NCL - [neuronal ceroid lipofuscinosis]; neuronal ceroid lipofuscinosis;

ICD-11 inclusion : infantile cerebral lipidosis; infantile amaurotic familial disease;

Details

Origin ID

797123687;

Automatic exact mappings (from CISMeF team)
- Neuronal Ceroid Lipofuscinosis [NCIt concept]
Currated CISMeF NLP mapping
- Ceroid lipofuscinosis, neuronal, 1 [OMIM Phenotype]
- Infantile neuronal ceroid lipofuscinosis [ORDO Disease]
- Infantile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Neuronal Ceroid Lipofuscinosis Type 1 [NCIt concept]
- ceroid lipofuscinosis, neuronal 1, infantile [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal, 1 [MeSH concept]
- infantile neuronal ceroid lipofuscinosis [MeSH concept]
- infantile neuronal ceroid lipofuscinosis [SNOMED Notion]
- infantile neuronal ceroid lipofuscinosis [Disease (Nov.)]
Validated automatic mappings to BTNT
- CLN1 disease [ORDO Disease]
Validated automatic mappings to NTBT
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]

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