Mucopolysaccharidosis type 1

ICD-11 code : 5C56.30;

Preferred Label : Mucopolysaccharidosis type 1;

ICD-11 definition : Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome (57% of cases) being the most severe, Scheie syndrome (20% of cases) the mildest and Hurler-Scheie syndrome (23% of cases) giving an intermediate phenotype.;

ICD-11 synonym : Alpha-L-iduronidase deficiency; dysostosis multiplex syndrome; MPS1 - [Mucopolysaccharidosis type 1]; dysostosis multiplex; Gargoylism; l-iduronidase deficiency; Lipochondrodystrophy;

ICD-11 acronym : MPS1;

Détails

Origin ID

1539226250;

Automatic exact mappings (from CISMeF team)
- 40S Ribosomal Protein S27 [NCIt concept]
- Dysostosis multiplex [HPO term]
- Dysostosis multiplex (disorder) [SNOMED CT concept]
- Dysostosis multiplex group (disorder) [SNOMED CT concept]
- Hurler syndrome [PASCAL descriptor]
- IDUA wt Allele [NCIt concept]
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
- MPEG1 wt Allele [NCIt concept]
- Mucopolysaccharidosis type I [LOINC component]
- RPS27 wt Allele [NCIt concept]
- Ribosomal protein s27 [OMIM gene]
- Ttk protein kinase [OMIM gene]
- mucopolysaccharidosis Ih [DO Concept]
- ribosomal protein S27 [ORDO Gene]
Currated CISMeF NLP mapping
- Alpha-L-iduronidase deficiency [MedDRA LLT]
- Mucopolysaccharidosis I [MedDRA Preferred Term]
- Mucopolysaccharidosis Type I [NCIt concept]
- Mucopolysaccharidosis type 1 [ORDO Disease]
- Mucopolysaccharidosis type I (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type I [ICD-10 Sub-category]
- Mucopolysaccharidosis, type I [ICD-10 Sub-category (who)]
- alpha-L-Iduronidase deficiency [MeSH concept]
- mucopolysaccharidosis 1 [Disease (Nov.)]
- mucopolysaccharidosis I [DO Concept]
- mucopolysaccharidosis I [MeSH Descriptor]
- mucopolysaccharidosis I [MeSH concept]
- mucopolysaccharidosis, mps-i [SNOMED Notion]
ICD-10 Mapping
- Mucopolysaccharidosis, type I [ICD-10 Sub-category]
See also inter- (CISMeF)
- alpha-L-iduronidase [ORDO Gene]
Validated automatic mappings to BTNT
- Mucopolysaccharidosis type I-H (disorder) [SNOMED CT concept]
- mucopolysaccharidosis, mps-i-h [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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