type II mucolipidosis

Preferred Label : type II mucolipidosis;

CISMeF synonym : Mucolipidosis IIs; Mucolipidosis Type IIs;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0014163;

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 II alpha/beta [OMIM Phenotype]
- Mucolipidosis type 2 [ICD-11 More detail]
- Mucolipidosis type II [MedDRA Preferred Term]
- Mucolipidosis type II [ORDO Disease]
- i-cell disease [SNOMED Notion]
- mucolipidosis II alpha/beta [DO Concept]
- mucolipidosis type II [Disease (Nov.)]
Related record
- mucolipidoses [MeSH Descriptor]
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]
- i-cell disease [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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