neuronal ceroid-lipofuscinoses

Preferred Label : neuronal ceroid-lipofuscinoses;

MeSH definition : A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.;

MeSH synonym : ceroid-lipofuscinosis, neuronal; ceroid lipofuscinosis, neuronal; neuronal ceroid-lipofuscinosis; lipofuscinosis, neuronal ceroid; neuronal ceroid lipofuscinosis; ceroid storage disease; ceroid storage diseases; disease, ceroid storage; storage disease, ceroid; lipofuscin storage disease; disease, lipofuscin storage; lipofuscin storage diseases; storage disease, lipofuscin; neuronal ceroid lipofuscinoses;

CISMeF synonym : diseases, kuf's; kuf's diseases; CLN4Bs; diseases, Spielmeyer-Sjogren; Spielmeyer-Sjogren diseases; diseases, Vogt-Spielmeyer; Vogt-Spielmeyer diseases; diseases, ceroid storage; diseases, lipofuscin storage; storage diseases, ceroid; storage diseases, lipofuscin;

MeSH hyponym : late infantile neuronal ceroid lipofuscinosis; infantile neuronal ceroid lipofuscinosis; juvenile neuronal ceroid lipofuscinosis; adult neuronal ceroid lipofuscinosis; ceroid lipofuscinosis, neuronal, parry type; Late-Infantile neuronal ceroid lipofuscinosis; Santavuori-Haltia Disease; Santavuori Haltia Disease; Neuronal Ceroid Lipofuscinosis, Infantile; Vogt-Spielmeyer Disease; Disease, Vogt-Spielmeyer; Neuronal Ceroid Lipofuscinosis Juvenile Type; Ceroid Lipofuscinosis, Neuronal 3, Juvenile; Juvenile Batten Disease; Batten Disease, Juvenile; Batten Diseases, Juvenile; Disease, Juvenile Batten; Diseases, Juvenile Batten; Juvenile Batten Diseases; CLN3-Related Neuronal Ceroid-Lipofuscinosis; CLN3 Related Neuronal Ceroid Lipofuscinosis; CLN3-Related Neuronal Ceroid-Lipofuscinoses; Ceroid-Lipofuscinoses, CLN3-Related Neuronal; Ceroid-Lipofuscinosis, CLN3-Related Neuronal; Neuronal Ceroid-Lipofuscinoses, CLN3-Related; Neuronal Ceroid-Lipofuscinosis, CLN3-Related; Juvenile Cerebroretinal Degeneration; Cerebroretinal Degeneration, Juvenile; Cerebroretinal Degenerations, Juvenile; Juvenile Cerebroretinal Degenerations; Batten Disease; Batten-Mayou Disease; Batten Mayou Disease; Spielmeyer-Vogt Disease; Spielmeyer Vogt Disease; Neuronal Ceroid Lipofuscinosis, Juvenile; Ceroid Lipofuscinosis, Neuronal, 3; Spielmeyer-Sjogren Disease; Disease, Spielmeyer-Sjogren; Spielmeyer Sjogren Disease; Batten-Spielmeyer-Vogt Disease; Batten Spielmeyer Vogt Disease; Vogt Spielmeyer Disease; Disease, Vogt Spielmeyer; Spielmeyer Disease, Vogt; Kuf's Disease; Disease, Kuf's; Kuf Disease; Kufs Type Neuronal Ceroid Lipofuscinosis; Amaurotic Idiocy, Adult Type; Ceroid Lipofuscinosis, Neuronal 4; Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive; Neuronal Ceroid Lipofuscinosis, Adult Type; Neuronal Ceroid Lipofuscinosis, Adult; Kufs Disease, Autosomal Recessive; CLN4A; CLN4As; Kufs Disease; Kufs Disease Autosomal Recessive; Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant; CLN4B; Kufs Disease, Autosomal Dominant; Neuronal Ceroid Lipofuscinosis, Late Infantile; Neuronal Ceroid Lipofuscinosis, Late-Infantile; Jansky-Bielschowsky Disease; Jansky Bielschowsky Disease;

Wikipedia link : https://en.wikipedia.org/wiki/Ceroid lipofuscinosis, neuronal 4;

Details

Origin ID

D009472;

UMLS CUI

C0027877;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Adult neuronal ceroid lipofuscinosis [ORDO Disease]
- Adult neuronal ceroid lipofuscinosis [MedDRA LLT]
- Adult neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Batten disease [DO Concept]
- Batten's disease [MedDRA LLT]
- Bielchowsky-Jansky disease [PASCAL descriptor]
- CLN3 Gene [NCIt concept]
- CLN3 lysosomal/endosomal transmembrane protein, battenin [ORDO Gene]
- CLN3 lysosomal/endosomal transmembrane protein, battenin [HGNC gene]
- CLN3 wt Allele [NCIt concept]
- Ceroid lipofuscinosis, neuronal, 2 [OMIM Phenotype]
- Ceroid lipofuscinosis, neuronal, 6a [OMIM Phenotype]
- Cln3 lysosomal/endosomal transmembrane protein, battenin [OMIM gene]
- Infantile neuronal ceroid lipofuscinosis [ORDO Disease]
- Juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
- Juvenile neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Kufs disease [PASCAL descriptor]
- Kufs disease [MedDRA LLT]
- Late infantile neuronal ceroid lipofuscinosis [ORDO Disease]
- Neuronal Ceroid Lipofuscinosis Type 1 [NCIt concept]
- Neuronal Ceroid Lipofuscinosis Type 2 [NCIt concept]
- Neuronal Ceroid Lipofuscinosis Type 3 [NCIt concept]
- Nucleolin [OMIM gene]
- PPT1 wt Allele [NCIt concept]
- Spielmeyer-Vogt disease [PASCAL descriptor]
- Vogt-Spielmeyer disease [MedDRA LLT]
- infantile neuronal ceroid lipofuscinosis [SNOMED Notion]
- juvenile neuronal ceroid lipofuscinosis [SNOMED Notion]
- neuronal ceroid lipofuscinosis 3 [DO Concept]
- neuronal ceroid lipofuscinosis 4A [DO Concept]
- neuronal ceroid lipofuscinosis 4B [DO Concept]
Currated CISMeF NLP mapping
- Neuronal Ceroid Lipofuscinosis [NCIt concept]
- Neuronal ceroid lipofuscinosis [PASCAL descriptor]
- Neuronal ceroid lipofuscinosis [MedDRA Preferred Term]
- Neuronal ceroid lipofuscinosis [ICD-10 Sub-category]
- Neuronal ceroid lipofuscinosis [ICD-11 Subcategory]
- Neuronal ceroid lipofuscinosis [ICD-10 Sub-category (who)]
- Neuronal ceroid lipofuscinosis [ORDO Disease]
- Neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Neuronal ceroid lipofuscinosis NOS [MedDRA LLT]
- neuronal ceroid lipofuscinosis [DO Concept]
- neuronal ceroid lipofuscinosis [Disease (Nov.)]
- neuronal ceroid lipofuscinosis [SNOMED Notion]
- neuronal ceroid lipofuscinosis [Error of metabolism category]
DO Cross reference
- neuronal ceroid lipofuscinosis [DO Concept]
Indexing information
- CLN3 protein, human [MeSH Supplementary Concept]
- CLN3 protein, rat [MeSH Supplementary Concept]
- CLN5 protein, human [MeSH Supplementary Concept]
- CLN6 protein, human [MeSH Supplementary Concept]
- Cln5 protein, mouse [MeSH Supplementary Concept]
- Cln6 protein, mouse [MeSH Supplementary Concept]
- PPT1 protein, human [MeSH Supplementary Concept]
Manual BTNT mappings - CISMeF
- Congenital neuronal ceroid lipofuscinosis [ORDO Disease]
- Progressive epilepsy-intellectual disability syndrome, Finnish type [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Cerebral lipidosis with dementia [ORDO Disease]
- Disorder of lysosomal amino acid transport [ORDO Disease]
- Genetic neurodegenerative disease [ORDO Disease]
- Metabolic disease with dementia [ORDO Disease]
- Metabolic disease with pigmentary retinitis [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare dementia [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
ORDO relation(s)
- Neuronal ceroid lipofuscinosis [ORDO Disease]
Record concept(s)
- Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive [MeSH concept]
- Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant [MeSH concept]
- Late-Infantile neuronal ceroid lipofuscinosis [MeSH concept]
- adult neuronal ceroid lipofuscinosis [MeSH concept]
- infantile neuronal ceroid lipofuscinosis [MeSH concept]
- juvenile neuronal ceroid lipofuscinosis [MeSH concept]
- neuronal Ceroid-Lipofuscinoses [MeSH concept]
Related MeSH Supplementary Concept(s)
- ceroid lipofuscinosis, neuronal 1, infantile [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal 5 [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal 8 [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal 9 [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal, 1 [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal, 10 [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal, 2 [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal, 6 [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal, 7 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ceroid storage disease [OMIM Phenotype]
- Neuronal Ceroid Lipofuscinosis [NCIt concept]
- Neuronal ceroid lipofuscinosis [ORDO Disease]
- Neuronal ceroid lipofuscinosis [MedDRA Preferred Term]
- Neuronal ceroid lipofuscinosis [ICD-10 Sub-category]
- Neuronal ceroid lipofuscinosis [ICD-10 Sub-category (who)]
- Neuronal ceroid lipofuscinosis [PASCAL descriptor]
- Neuronal ceroid lipofuscinosis [ICD-11 Subcategory]
- Neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Neuronal ceroid lipofuscinosis NOS [MedDRA LLT]
- neuronal ceroid lipofuscinosis [DO Concept]
- neuronal ceroid lipofuscinosis [Disease (Nov.)]
- neuronal ceroid lipofuscinosis [SNOMED Notion]
Validated automatic mappings to BTNT
- Adult neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Adult neuronal ceroid lipofuscinosis [ORDO Disease]
- Adult neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Batten disease [Disease (Nov.)]
- Batten's disease [MedDRA LLT]
- Bielchowsky-Jansky disease [PASCAL descriptor]
- CLN1 disease [ORDO Disease]
- Ceroid lipofuscinosis, neuronal, 1 [OMIM Phenotype]
- Ceroid lipofuscinosis, neuronal, 3 [OMIM Phenotype]
- Ceroid lipofuscinosis, neuronal, 4 (kufs type) [OMIM Phenotype]
- Ceroid lipofuscinosis, neuronal, 6b (kufs type) [OMIM Phenotype]
- Ceroid storage disease [OMIM Phenotype]
- Infantile neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Infantile neuronal ceroid lipofuscinosis [ORDO Disease]
- Infantile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Jansky Bielshowsky syndrome [Disease (Nov.)]
- Juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
- Juvenile neuronal ceroid lipofuscinosis [MedDRA LLT]
- Juvenile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Kufs disease [PASCAL descriptor]
- Late infantile neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Late infantile neuronal ceroid lipofuscinosis [ORDO Disease]
- Late-infantile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Neuronal Ceroid Lipofuscinosis Type 1 [NCIt concept]
- Neuronal Ceroid Lipofuscinosis Type 2 [NCIt concept]
- Neuronal Ceroid Lipofuscinosis Type 3 [NCIt concept]
- Spielmeyer-Vogt disease [PASCAL descriptor]
- Vogt-Spielmeyer disease [MedDRA LLT]
- adult neuronal ceroid lipofuscinosis [Disease (Nov.)]
- adult neuronal ceroid lipofuscinosis [SNOMED Notion]
- infantile neuronal ceroid lipofuscinosis [Disease (Nov.)]
- infantile neuronal ceroid lipofuscinosis [SNOMED Notion]
- juvenile neuronal ceroid lipofuscinosis [SNOMED Notion]
- late-infantile neuronal ceroid lipofuscinosis [SNOMED Notion]
Validated automatic mappings to NTBT
- Neuronal Ceroid Lipofuscinosis Type 4B [NCIt concept]

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