I-Cell Disease

Preferred Label : I-Cell Disease;

NCIt synonyms : Inclusion-cell Disease; Mucolipidosis Type II;

NCIt definition : An inherited lysosomal storage disease characterized by the presence of dense intracytoplasmic inclusions in mesenchymal cells, especially fibroblasts. Signs and symptoms include developmental delay, psychomotor deterioration, and growth failure.;

Details

Origin ID

C61270;

UMLS CUI

C0020725;

Automatic exact mappings (from CISMeF team)
- I cell disease [PASCAL descriptor]
Currated CISMeF NLP mapping
- I-cell disease (disorder) [SNOMED CT concept]
- Mucolipidosis 2 [MeSH concept]
- Mucolipidosis II alpha/beta [OMIM Phenotype]
- Mucolipidosis type 2 [ICD-11 More detail]
- Mucolipidosis type II [ORDO Disease]
- Mucolipidosis type II [MedDRA Preferred Term]
- i-cell disease [SNOMED Notion]
- mucolipidoses [MeSH Descriptor]
- mucolipidosis 2 [MeSH Supplementary Concept]
- mucolipidosis II alpha/beta [DO Concept]
- mucolipidosis type II [Disease (Nov.)]
- type II mucolipidosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of N-acetylglucosamine-1-phosphotransferase [HPO term]
- I-cell disease (disorder) [SNOMED CT concept]
- Mucolipidosis type II [MedDRA Preferred Term]
- i-cell disease [SNOMED Notion]
- type II mucolipidosis [MeSH concept]
Validated automatic mappings to NTBT
- mucolipidosis [Disease (Nov.)]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GNPTAB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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