Mucolipidosis - CISMeF

Preferred Label : Mucolipidosis;

NCIt definition : A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.;

Details

Origin ID

C61267;

UMLS CUI

C0026697;

Automatic exact mappings (from CISMeF team)
- Mucolipidosis III [PASCAL descriptor]
Currated CISMeF NLP mapping
- Mucolipidosis [MedDRA Preferred Term]
- Mucolipidosis [PASCAL descriptor]
- Mucolipidosis [ICD-11 Sub-sub category]
- Mucolipidosis [ORDO Disease]
- Mucolipidosis (disorder) [SNOMED CT concept]
- mucolipidoses [Error of metabolism category]
- mucolipidoses [MeSH Descriptor]
- mucolipidoses [MeSH concept]
- mucolipidosis [Disease (Nov.)]
- mucolipidosis [DO Concept]
- mucolipidosis, nos [SNOMED Notion]
DO Cross reference
- glycoproteinosis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucolipidosis [ORDO Disease]
- Mucolipidosis [MedDRA Preferred Term]
- Mucolipidosis [ICD-11 Sub-sub category]
- Mucolipidosis (disorder) [SNOMED CT concept]
- glycoproteinosis [DO Concept]
- mucolipidoses [MeSH concept]
- mucolipidoses [MeSH Descriptor]
- mucolipidosis [Disease (Nov.)]
- mucolipidosis [DO Concept]
- mucolipidosis, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Mucolipidosis II alpha/beta [OMIM Phenotype]
- Mucolipidosis III alpha/beta [OMIM Phenotype]
- Mucolipidosis type 2 [ICD-11 More detail]
- Neuraminidase deficiency [OMIM Phenotype]
- mucolipidosis type I [Disease (Nov.)]
- mucolipidosis type II [Disease (Nov.)]
- sialidosis type II [Disease (Nov.)]
Validated automatic mappings to NTBT
- metabolic disorders [MedlinePlus Topic]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients