pseudo-hurler polydystrophy

Preferred Label : pseudo-hurler polydystrophy;

Origin ID

D6-72220;

UMLS CUI

C0033788;

Currated CISMeF NLP mapping
- Mucolipidosis III alpha/beta [OMIM Phenotype]
- Mucolipidosis type 3 [ICD-11 More detail]
- Mucolipidosis type III [MedDRA Preferred Term]
- Mucolipidosis type III [ORDO Disease]
- Pseudo-Hurler polydystrophy (disorder) [SNOMED CT concept]
- mucolipidoses [MeSH Descriptor]
- mucolipidosis III alpha/beta [DO Concept]
- mucolipidosis type III [Disease (Nov.)]
- type III 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
- Pseudo-Hurler polydystrophy (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucolipidosis III alpha/beta [OMIM Phenotype]
- Mucolipidosis type 3 [ICD-11 More detail]
- Mucolipidosis type III [MedDRA Preferred Term]
- Mucolipidosis type III [ORDO Disease]
- Pseudo-Hurler polydystrophy (disorder) [SNOMED CT concept]
- mucolipidosis III alpha/beta [DO Concept]
- mucolipidosis type III [Disease (Nov.)]
- type III mucolipidosis [MeSH concept]