Mucolipidosis type 4

Preferred Label : Mucolipidosis type 4;

ICD-11 definition : Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.;

ICD-11 synonym : Sialolipidosis;

Details

Origin ID

597963317;

UMLS CUI

C0238286;

Currated CISMeF NLP mapping
- Ganglioside sialidase deficiency (disorder) [Inactive SNOMED CT concept]
- Mucolipidosis Type IV [NCIt concept]
- Mucolipidosis iv [OMIM Phenotype]
- Mucolipidosis type IV [ORDO Disease]
- Mucolipidosis type IV [MedDRA Preferred Term]
- Mucolipidosis type IV (disorder) [SNOMED CT concept]
- ganglioside sialidase deficiency [SNOMED Notion]
- 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 Type IV [NCIt concept]
- Mucolipidosis iv [OMIM Phenotype]
- 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
- Other gangliosidosis [ICD-10 Sub-category (who)]
- mucolipidoses [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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