mucopolysaccharidosis, mps-iii-a

Preferred Label : mucopolysaccharidosis, mps-iii-a;

Details

Origin ID

D6-70231;

UMLS CUI

C0086647;

CISMeF manual mappings
- Mucopolysaccharidosis type 3 [ORDO Disease]
Currated CISMeF NLP mapping
- MPS III A [MeSH concept]
- Mucopolysaccharidosis III-A (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis Type IIIA [NCIt concept]
- Mucopolysaccharidosis type 3A [ICD-11 More detail]
- Mucopolysaccharidosis, type iiia [OMIM Phenotype]
- Sanfilippo syndrome type A [ORDO Disease]
- Sanfilippo's syndrome [MedDRA LLT]
- mucopolysaccharidosis iii [MeSH Descriptor]
- mucopolysaccharidosis type IIIa [Disease (Nov.)]
ICD-10 exact mapping(s)
- Other mucopolysaccharidoses [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- n-sulfoglucosamine sulfohydrolase [SNOMED Notion]
SNOMED CT concept
- Mucopolysaccharidosis III-A (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MPS III A [MeSH concept]
- Mucopolysaccharidosis III-A (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis Type IIIA [NCIt concept]
- Mucopolysaccharidosis type 3A [ICD-11 More detail]
- Mucopolysaccharidosis, type iiia [OMIM Phenotype]
- Sanfilippo syndrome type A [ORDO Disease]
- mucopolysaccharidosis type IIIA [DO Concept]
- mucopolysaccharidosis type IIIa [Disease (Nov.)]
Validated automatic mappings to NTBT
- Mucopolysaccharidosis type 3 [ICD-11 More detail]
- Sanfilippo Syndrome [NCIt concept]
- Sanfilippo syndrome [Disease (Nov.)]

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