Mucopolysaccharidosis type 1H

Preferred Label : Mucopolysaccharidosis type 1H;

ICD-11 definition : Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor and intellectual development. Patients present within the first year of life with musculoskeletal alterations including short stature, dysostosis multiplex, thoracic-lumbar kyphosis, progressive coarsening of the facial features, cardiomyopathy and valvular abnormalities and progressive cognitive and sensorial deterioration.;

ICD-11 synonym : Hurler syndrome; Mucopolysaccharidosis type 1, severe form; MPS1H - [Mucopolysaccharidosis type 1H];

ICD-11 acronym : MPS1H;

Details

Origin ID

1925191093;

UMLS CUI

C0086795;

Currated CISMeF NLP mapping
- Hurler Syndrome [NCIt concept]
- Hurler syndrome [ORDO Disease]
- Hurler syndrome [Radlex concept]
- Hurler syndrome [OMIM Phenotype]
- Hurler syndrome [PASCAL descriptor]
- Hurler's syndrome [MedDRA LLT]
- Mucopolysaccharidosis type I-H (disorder) [SNOMED CT concept]
- hurler syndrome [MeSH concept]
False automatic mappings
- Screaming syndrome [MedDRA LLT]
- Syndrome screaming [MedDRA LLT]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dysostosis multiplex [HPO term]
- Dysostosis multiplex (disorder) [SNOMED CT concept]
- Hurler Syndrome [NCIt concept]
- Hurler syndrome [OMIM Phenotype]
- Hurler syndrome [Disease (Nov.)]
- Hurler syndrome [ORDO Disease]
- Hurler syndrome [PASCAL descriptor]
- Hurler syndrome [Radlex concept]
- Hurler's disease [MedDRA LLT]
- Hurler's syndrome [MedDRA LLT]
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
- MPS I H [MedDRA LLT]
- Mucopolysaccharidosis type I-H (disorder) [SNOMED CT concept]
- hurler syndrome [MeSH concept]
- mucopolysaccharidosis Ih [DO Concept]
- mucopolysaccharidosis, mps-i-h [SNOMED Notion]
Validated automatic mappings to NTBT
- mucopolysaccharidosis I [DO Concept]
- mucopolysaccharidosis I [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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