Mucopolysaccharidosis Type IX

Preferred Label : Mucopolysaccharidosis Type IX;

NCIt synonyms : MPS9; Hyaluronidase Deficiency;

NCIt definition : An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.;

Details

Origin ID

C129073;

UMLS CUI

C1291490;

Automatic exact mappings (from CISMeF team)
- Mucopolysaccharidosis IX [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Deficiency of hyaluronoglucosaminidase (disorder) [SNOMED CT concept]
- Hyaluronidase deficiency [ORDO Disease]
- Mucopolysaccharidosis type 9 [ICD-11 More detail]
- Mucopolysaccharidosis, type ix [OMIM Phenotype]
- hyaluronidase deficiency [MeSH concept]
- hyaluronidase deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of hyaluronoglucosaminidase (disorder) [SNOMED CT concept]
- Hyaluronidase deficiency [ORDO Disease]
- Mucopolysaccharidosis type 9 [ICD-11 More detail]
- Mucopolysaccharidosis, type ix [OMIM Phenotype]
- hyaluronidase deficiency [MeSH Supplementary Concept]
- hyaluronidase deficiency [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- HYAL1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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