Hurler syndrome

Preferred Label : Hurler syndrome;

RADLEX synonyms : Hurler disease; mucopolysaccharidosis type I; gargoylism; MPS I;

Details

Origin ID

RID34621;

UMLS CUI

C0086795;

Associated condition of
- bullet-shaped vertebra sign [Radlex concept]
- claw hand [Radlex concept]
Automatic exact mappings (from CISMeF team)
- Mucopolysaccharidosis Type I [NCIt concept]
- Mucopolysaccharidosis type 1 [ORDO Disease]
- Mucopolysaccharidosis type I [LOINC component]
- Mucopolysaccharidosis type I (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type I [ICD-10 Sub-category (who)]
- Screaming syndrome [MedDRA LLT]
- Syndrome screaming [MedDRA LLT]
- mucopolysaccharidosis I [DO Concept]
- mucopolysaccharidosis I [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hurler Syndrome [NCIt concept]
- Hurler syndrome [PASCAL descriptor]
- Hurler syndrome [Disease (Nov.)]
- Hurler syndrome [OMIM Phenotype]
- Hurler syndrome [ORDO Disease]
- Hurler's syndrome [MedDRA LLT]
- Mucopolysaccharidosis type 1H [ICD-11 More detail]
- Mucopolysaccharidosis type I-H (disorder) [SNOMED CT concept]
- hurler syndrome [MeSH concept]
- mucopolysaccharidosis Ih [DO Concept]
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 [ORDO Disease]
- Hurler syndrome [Disease (Nov.)]
- Hurler syndrome [PASCAL descriptor]
- 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 1H [ICD-11 More detail]
- Mucopolysaccharidosis type I-H (disorder) [SNOMED CT concept]
- hurler syndrome [MeSH concept]
- mucopolysaccharidosis Ih [DO Concept]
- mucopolysaccharidosis, mps-i-h [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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