infantile neuronal ceroid lipofuscinosis - CISMeF

CISMeF

chu

Infantile neuronal ceroid lipofuscinosisSNOMED Notion

Preferred Label : infantile neuronal ceroid lipofuscinosis;

Details

Origin ID

D6-77110;

UMLS CUI

C0268281;

Automatic exact mappings (from CISMeF team)
- Muscle-eye-brain disease [ORDO Disease]
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
CISMeF manual mappings
- ceroid lipofuscinosis, neuronal 1, infantile [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Ceroid lipofuscinosis, neuronal, 1 [OMIM Phenotype]
- Infantile neuronal ceroid lipofuscinosis [ICD-11 More detail]
- 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 [MeSH concept]
- infantile neuronal ceroid lipofuscinosis [Disease (Nov.)]
- infantile neuronal ceroid lipofuscinosis [MeSH concept]
ICD-10 exact mapping(s)
- Neuronal ceroid lipofuscinosis [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Congenital muscular dystrophy due to glycosyltransferase anomaly [ORDO Disease]
- Qualitative or quantitative defects of FKRP [ORDO Disease]
- Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase [ORDO Disease]
- Qualitative or quantitative defects of protein O-mannosyltransferase 2 [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Syndromic myopia [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- cerolipoid [SNOMED Notion]
SNOMED CT concept
- Infantile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Neuronal Ceroid Lipofuscinosis Type 1 [NCIt concept]
- infantile neuronal ceroid lipofuscinosis [MeSH concept]
- infantile neuronal ceroid lipofuscinosis [Disease (Nov.)]
Validated automatic mappings to BTNT
- CLN1 disease [ORDO Disease]
- Neuronal Ceroid Lipofuscinosis Type 1 [NCIt concept]
Validated automatic mappings to NTBT
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients

Nous contacter.
13/05/2024

© Rouen University Hospital. Any partial or total use of this material must mention the source.