Mucolipidosis Type IV

Preferred Label : Mucolipidosis Type IV;

NCIt related terms : Mucolipidosis IV;

NCIt definition : An autosomal recessive lysosomal storage disease caused by mutations in the MCOLN1 gene. It is characterized by psychomotor developmental delays and ophthalmologic abnormalities.;

Codes from synonyms : E75.11;

Details

Origin ID

C84896;

UMLS CUI

C0238286;

Automatic exact mappings (from CISMeF team)
- gangliosidosis [DO Concept]
- mucolipidosis type IV [DO Concept]
- mucolipin TRP cation channel 1 [ORDO Gene]
- mucolipin TRP cation channel 1 [HGNC gene]
Currated CISMeF NLP mapping
- Ganglioside sialidase deficiency (disorder) [Inactive SNOMED CT concept]
- Mucolipidosis iv [OMIM Phenotype]
- Mucolipidosis type 4 [ICD-11 More detail]
- Mucolipidosis type IV [MedDRA Preferred Term]
- Mucolipidosis type IV [ORDO Disease]
- Mucolipidosis type IV (disorder) [SNOMED CT concept]
- ganglioside sialidase deficiency [SNOMED Notion]
- mucolipidoses [MeSH Descriptor]
- mucolipidosis type IV [Disease (Nov.)]
- type IV mucolipidosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ganglioside sialidase deficiency (disorder) [Inactive SNOMED CT concept]
- Mucolipidosis iv [OMIM Phenotype]
- Mucolipidosis type 4 [ICD-11 More detail]
- Mucolipidosis type IV [MedDRA Preferred Term]
- Mucolipidosis type IV [ORDO Disease]
- Mucolipidosis type IV (disorder) [SNOMED CT concept]
- ganglioside sialidase deficiency [SNOMED Notion]
- mucolipidosis type IV [Disease (Nov.)]
- type IV mucolipidosis [MeSH concept]
Validated automatic mappings to NTBT
- mucolipidosis [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- mCode Elixhauser Other Neurological Disorder Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MCOLN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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