Mucopolysaccharidosis Type IVA

Preferred Label : Mucopolysaccharidosis Type IVA;

NCIt synonyms : MPS IV A;

NCIt definition : A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.;

Details

Origin ID

C84901;

UMLS CUI

C0086651;

Automatic exact mappings (from CISMeF team)
- Morquio syndrome [Radlex concept]
- galactosamine (N-acetyl)-6-sulfatase [ORDO Gene]
- galactosamine (N-acetyl)-6-sulfatase [HGNC gene]
- mucopolysaccharidosis IV [MeSH Descriptor]
Currated CISMeF NLP mapping
- Mucopolysaccharidosis IV-A (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis type 4A [ORDO Disease]
- Mucopolysaccharidosis type 4A [ICD-11 More detail]
- Mucopolysaccharidosis, type iva [OMIM Phenotype]
- mucopolysaccharidosis type IV A [MeSH concept]
- mucopolysaccharidosis type IVa [Disease (Nov.)]
- mucopolysaccharidosis, mps-iv-a [SNOMED Notion]
DO Cross reference
- mucopolysaccharidosis IVA [DO Concept]
False automatic mappings
- Deficiency of N-acetylgalactosamine-6-sulfatase (finding) [SNOMED CT concept]
See also inter- (CISMeF)
- mucopolysaccharidosis IV [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of N-acetylgalactosamine-6-sulfatase (finding) [SNOMED CT concept]
- Mucopolysaccharidosis IV-A (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis type 4A [ORDO Disease]
- Mucopolysaccharidosis type 4A [ICD-11 More detail]
- Mucopolysaccharidosis, type iva [OMIM Phenotype]
- mucopolysaccharidosis IVA [DO Concept]
- mucopolysaccharidosis type IV A [MeSH concept]
- mucopolysaccharidosis type IVa [Disease (Nov.)]
- mucopolysaccharidosis, mps-iv-a [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GALNS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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