Mucopolysaccharidosis Type IVB

Preferred Label : Mucopolysaccharidosis Type IVB;

NCIt synonyms : MPS IV B;

NCIt definition : A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.;

Details

Origin ID

C84902;

UMLS CUI

C0086652;

Automatic exact mappings (from CISMeF team)
- mucopolysaccharidosis IV [MeSH Descriptor]
- mucopolysaccharidosis type IVB [DO Concept]
Currated CISMeF NLP mapping
- Mucopolysaccharidosis type 4B [ORDO Disease]
- Mucopolysaccharidosis type 4B [ICD-11 More detail]
- Mucopolysaccharidosis type IVB (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type ivb [OMIM Phenotype]
- mucopolysaccharidosis type IV B [MeSH concept]
- mucopolysaccharidosis type IVb [Disease (Nov.)]
- mucopolysaccharidosis, mps-iv-b [SNOMED Notion]
DO Cross reference
- mucopolysaccharidosis type IVB [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucopolysaccharidosis type 4B [ORDO Disease]
- Mucopolysaccharidosis type 4B [ICD-11 More detail]
- Mucopolysaccharidosis type IVB (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type ivb [OMIM Phenotype]
- mucopolysaccharidosis type IV B [MeSH concept]
- mucopolysaccharidosis type IVB [DO Concept]
- mucopolysaccharidosis type IVb [Disease (Nov.)]
- mucopolysaccharidosis, mps-iv-b [SNOMED Notion]
Validated automatic mappings to NTBT
- mucopolysaccharidosis IV [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GLB1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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