Mucolipidosis type 3

Preferred Label : Mucolipidosis type 3;

ICD-11 definition : Mucolipidosis III (MLIII) or pseudo-Hurler-polydystrophy is an inborn error of metabolism clinically similar to Scheie's or Hurler-Scheie's mucopolysaccharidoses. Clinical manifestations include joint stiffness leading to the diagnosis during childhood, dysostosis multiplex and a less severe facial dysmorphism. Intelligence may be normal but most children have hearing difficulties. Corneal clouding appears as the disorder progresses.;

ICD-11 synonym : Pseudo-Hurler polydystrophy; Pseudo-Hurler disease;

CISMeF acronym : MLIII;

Details

Origin ID

1736525440;

UMLS CUI

C0033788;

Currated CISMeF NLP mapping
- Mucolipidosis III alpha/beta [OMIM Phenotype]
- Mucolipidosis type III [ORDO Disease]
- Mucolipidosis type III [MedDRA Preferred Term]
- Pseudo-Hurler polydystrophy (disorder) [SNOMED CT concept]
- mucolipidosis III alpha/beta [DO Concept]
- mucolipidosis type III [Disease (Nov.)]
- pseudo-hurler polydystrophy [SNOMED Notion]
- type III mucolipidosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucolipidosis III alpha/beta [OMIM Phenotype]
- 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.)]
- pseudo-hurler polydystrophy [SNOMED Notion]
- type III mucolipidosis [MeSH concept]
Validated automatic mappings to BTNT
- Mucolipidosis type 3 A [MeSH concept]
- mucolipidosis type 3 A [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- mucolipidoses [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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