i-cell disease

Preferred Label : i-cell disease;

Details

Origin ID

D6-72200;

UMLS CUI

C0020725;

Automatic exact mappings (from CISMeF team)
- Deficiency of N-acetylglucosamine-1-phosphotransferase [HPO term]
Currated CISMeF NLP mapping
- I-Cell Disease [NCIt concept]
- 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 [MedDRA Preferred Term]
- Mucolipidosis type II [ORDO Disease]
- mucolipidoses [MeSH Descriptor]
- mucolipidosis 2 [MeSH Supplementary Concept]
- mucolipidosis II alpha/beta [DO Concept]
- mucolipidosis type II [Disease (Nov.)]
- type II mucolipidosis [MeSH concept]
ICD-10 exact mapping(s)
- Defects in post-translational modification of lysosomal enzymes [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- udp-n-acetylglucosamine-lysosomal-enzyme-n-acetylglucosaminephosphotransferase [SNOMED Notion]
SNOMED CT concept
- I-cell disease (disorder) [SNOMED CT 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 [NCIt concept]
- I-cell disease (disorder) [SNOMED CT concept]
- Mucolipidosis type II [MedDRA Preferred Term]
- type II mucolipidosis [MeSH concept]
Validated automatic mappings to NTBT
- mucolipidosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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