Morquio Syndrome

Preferred Label : Morquio Syndrome;

NCIt synonyms : Mucopolysaccharidosis IV; Mucopolysaccharidosis Type IV;

NCIt definition : A rare autosomal recessive lysosomal storage disease characterized by abnormal skeletal developments, dwarfism, heart disorders, and central nervous system deficits.;

Details

Origin ID

C61263;

UMLS CUI

C0026707;

Automatic exact mappings (from CISMeF team)
- Morquio syndrome C [OMIM Phenotype]
- Mucopolysaccharidosis IV-A (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type iva [OMIM Phenotype]
- Mucopolysaccharidosis, type ivb [OMIM Phenotype]
- galactosamine (N-acetyl)-6-sulfatase [ORDO Gene]
- galactosamine (N-acetyl)-6-sulfatase [HGNC gene]
- mucopolysaccharidosis IVA [DO Concept]
- mucopolysaccharidosis type IV A [MeSH concept]
Currated CISMeF NLP mapping
- Morquio disease [MedDRA LLT]
- Morquio disease [PASCAL descriptor]
- Morquio syndrome [Radlex concept]
- Morquio syndrome [Disease (Nov.)]
- Morquio syndrome (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis IV [MedDRA Preferred Term]
- Mucopolysaccharidosis type 4 [ICD-11 Sub-sub category]
- Mucopolysaccharidosis type 4 [ORDO Disease]
- morquio syndrome, nos [SNOMED Notion]
- mucopolysaccharidosis IV [DO Concept]
- mucopolysaccharidosis IV [MeSH Descriptor]
- mucopolysaccharidosis IV [MeSH concept]
DO Cross reference
- mucopolysaccharidosis IV [DO Concept]
See also inter- (CISMeF)
- Mucopolysaccharidosis type 4A [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Morquio disease [MedDRA LLT]
- Morquio syndrome [Radlex concept]
- Morquio syndrome [Disease (Nov.)]
- Morquio syndrome (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis IV [MedDRA Preferred Term]
- Mucopolysaccharidosis type 4 [ORDO Disease]
- Mucopolysaccharidosis type 4 [ICD-11 Sub-sub category]
- morquio syndrome, nos [SNOMED Notion]
- mucopolysaccharidosis IV [DO Concept]
- mucopolysaccharidosis IV [MeSH concept]
- mucopolysaccharidosis IV [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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