Mucopolysaccharidosis Type IIID

Preferred Label : Mucopolysaccharidosis Type IIID;

NCIt synonyms : Sanfilippo D; MPS III D;

NCIt definition : A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.;

Détails

Origin ID

C84900;

UMLS CUI

C0086650;

Automatic exact mappings (from CISMeF team)
- mucopolysaccharidosis iii [MeSH Descriptor]
Currated CISMeF NLP mapping
- MPS III D [MeSH concept]
- Mucopolysaccharidosis III-D (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis type 3D [ICD-11 More detail]
- Mucopolysaccharidosis, type iiid [OMIM Phenotype]
- Sanfilippo syndrome type D [ORDO Disease]
- mucopolysaccharidosis type IIID [DO Concept]
- mucopolysaccharidosis type IIId [Disease (Nov.)]
- mucopolysaccharidosis, mps-iii-d [SNOMED Notion]
DO Cross reference
- mucopolysaccharidosis type IIID [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MPS III D [MeSH concept]
- Mucopolysaccharidosis III-D (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis type 3D [ICD-11 More detail]
- Mucopolysaccharidosis, type iiid [OMIM Phenotype]
- Sanfilippo syndrome type D [ORDO Disease]
- mucopolysaccharidosis type IIID [DO Concept]
- mucopolysaccharidosis type IIId [Disease (Nov.)]
- mucopolysaccharidosis, mps-iii-d [SNOMED Notion]
Validated automatic mappings to NTBT
- mucopolysaccharidosis iii [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GNS Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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