Hurler Syndrome

Preferred Label : Hurler Syndrome;

NCIt synonyms : MPS I H; Mucopolysaccharidosis Type IH;

NCIt definition : An autosomal recessive inherited disorder of mucopolysaccharide metabolism. It is the most severe form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase resulting in the accumulation of mucopolysaccharides in the tissues.;

Details

Origin ID

C61261;

UMLS CUI

C0086795;

CISMeF manual mappings
- Dysostosis multiplex (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Dysostosis multiplex [HPO term]
- Hurler syndrome [Disease (Nov.)]
- Hurler syndrome [PASCAL descriptor]
- Hurler syndrome [Radlex concept]
- Hurler syndrome [OMIM Phenotype]
- Hurler syndrome [ORDO Disease]
- Hurler's disease [MedDRA LLT]
- Hurler's syndrome [MedDRA LLT]
- 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]
DO Cross reference
- mucopolysaccharidosis Ih [DO 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 [OMIM Phenotype]
- Hurler syndrome [ORDO Disease]
- Hurler syndrome [Radlex concept]
- Hurler syndrome [PASCAL descriptor]
- Hurler syndrome [Disease (Nov.)]
- 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]
Validated automatic mappings to NTBT
- Mucopolysaccharidosis, type I [ICD-10 Sub-category]
- Mucopolysaccharidosis, type I [ICD-10 Sub-category (who)]
- mucopolysaccharidosis I [DO Concept]
- mucopolysaccharidosis I [MeSH Descriptor]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- IDUA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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