mucopolysaccharidosis iii

Preferred Label : mucopolysaccharidosis iii;

MeSH definition : Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.;

MeSH synonym : sanfilippos syndrome; oligophrenia, polydystrophic; polydystrophic oligophrenias; polydystrophic oligophrenia; oligophrenias, polydystrophic; syndrome, sanfilippo's; mucopolysaccharidosis iiis; san filippo's syndrome; san filippo syndrome; san filippos syndrome; syndrome, san filippo's; mucopolysaccharidosis 3; sanfilippo's syndrome; sanfilippo syndrome; sanfilippo syndromes; syndrome, sanfilippo; syndromes, sanfilippo;

CISMeF synonym : iiis, mucopolysaccharidosis; IIIBs, mucopolysaccharidosis type;

MeSH hyponym : MPS III D; MPS III A; MPS III C; MPS III B; Mucopolysaccharidosis Type 3 D; Mucopolysaccharidosis Type IIID; Mucopolysaccharidosis Type IIIDs; Sanfilippo Syndrome D; N-Acetylglucosamine-6-Sulfatase Deficiency; Deficiencies, N-Acetylglucosamine-6-Sulfatase; Deficiency, N-Acetylglucosamine-6-Sulfatase; N Acetylglucosamine 6 Sulfatase Deficiency; N-Acetylglucosamine-6-Sulfatase Deficiencies; MPS IIID; MPS IIIDs; MPS 3 D; N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency; Deficiencies, N-Acetylglucosamine-6-Sulfate Sulfatase; Deficiency, N-Acetylglucosamine-6-Sulfate Sulfatase; N Acetylglucosamine 6 Sulfate Sulfatase Deficiency; N-Acetylglucosamine-6-Sulfate Sulfatase Deficiencies; Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulfate; Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfate; Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency; Acetyl CoA:alpha Glucosaminide N Acetyltransferase Deficiency; Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiencies; Deficiencies, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase; Deficiency, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase; N-Acetyltransferase Deficiencies, Acetyl-CoA:alpha-Glucosaminide; N-Acetyltransferase Deficiency, Acetyl-CoA:alpha-Glucosaminide; Mucopolysaccharidosis Type IIIC; Mucopolysaccharidosis Type IIICs; MPS 3 C; MPS3C; MPS IIIC; Mucopolysaccharidosis Type 3 C; Sanfilippo Syndrome C; MPS 3 A; Mucopolysaccharidosis Type 3 A; Mucopolysaccharidosis Type IIIA; Mucopolysaccharidosis Type IIIAs; Sanfilippo Syndrome A; Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome; Sulfamidase Deficiency; Deficiencies, Sulfamidase; Deficiency, Sulfamidase; Sulfamidase Deficiencies; MPS IIIA; MPS3A; Heparan Sulfate Sulfatase Deficiency; Sanfilippo Syndrome B; MPS3B; Mucopolysaccharidosis Type IIIB; Mucopolysaccharidosis Type IIIBs; NAGLU Deficiency; Deficiencies, NAGLU; Deficiency, NAGLU; NAGLU Deficiencies; N-Acetyl-alpha-D-Glucosaminidase Deficiency; Deficiencies, N-Acetyl-alpha-D-Glucosaminidase; Deficiency, N-Acetyl-alpha-D-Glucosaminidase; N Acetyl alpha D Glucosaminidase Deficiency; N-Acetyl-alpha-D-Glucosaminidase Deficiencies; MPS IIIB; Mucopolysaccharidosis Type 3 B; MPS 3 B;

Details

Origin ID

D009084;

UMLS CUI

C0026706;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Mucopolysaccharidosis [PASCAL descriptor]
- Mucopolysaccharidosis [ACR pathology]
- Mucopolysaccharidosis [NCIt concept]
- Mucopolysaccharidosis [ACR pathology]
- Mucopolysaccharidosis Type IIIB [NCIt concept]
- Mucopolysaccharidosis Type IIIC [NCIt concept]
- Mucopolysaccharidosis Type IIID [NCIt concept]
- Mucopolysaccharidosis, type iiib [OMIM Phenotype]
- Mucopolysaccharidosis, type iiic [OMIM Phenotype]
- Mucopolysaccharidosis, type iiid [OMIM Phenotype]
- N-sulfoglucosamine sulfohydrolase [HGNC gene]
- N-sulfoglucosamine sulfohydrolase [ORDO Gene]
- San Filippo disease [PASCAL descriptor]
- Sanfilippo syndrome type B [ORDO Disease]
- Sanfilippo syndrome type C [ORDO Disease]
- Sanfilippo syndrome type D [ORDO Disease]
- Scheie mucopolysaccharidosis [PASCAL descriptor]
- mucopolysaccharidosis [Radlex concept]
- mucopolysaccharidosis type IIIB [DO Concept]
- mucopolysaccharidosis type IIIC [DO Concept]
- mucopolysaccharidosis type IIID [DO Concept]
- mucopolysaccharidosis, mps-iii-b [SNOMED Notion]
- mucopolysaccharidosis, mps-iii-c [SNOMED Notion]
- mucopolysaccharidosis, mps-iii-d [SNOMED Notion]
Currated CISMeF NLP mapping
- Mucopolysaccharidosis III [MedDRA Preferred Term]
- Mucopolysaccharidosis type 3 [ICD-11 More detail]
- Mucopolysaccharidosis type 3 [ORDO Disease]
- Mucopolysaccharidosis, type iiia [OMIM Phenotype]
- Sanfilippo Syndrome [NCIt concept]
- Sanfilippo syndrome [Disease (Nov.)]
- Sanfilippo syndrome (disorder) [SNOMED CT concept]
- Sanfilippo syndrome type A [ORDO Disease]
- Sanfilippo's syndrome [MedDRA LLT]
- mucopolysaccharidosis III [DO Concept]
- mucopolysaccharidosis type IIIA [DO Concept]
- mucopolysaccharidosis, mps-iii-a [SNOMED Notion]
- sanfilippo syndrome, nos [SNOMED Notion]
DO Cross reference
- mucopolysaccharidosis III [DO Concept]
- mucopolysaccharidosis type IIIA [DO Concept]
- mucopolysaccharidosis type IIIB [DO Concept]
- mucopolysaccharidosis type IIIC [DO Concept]
- mucopolysaccharidosis type IIID [DO Concept]
False automatic mappings
- Mucopolysaccharidosis I [MedDRA Preferred Term]
- Mucopolysaccharidosis II [MedDRA Preferred Term]
Indexing information
- N-sulfoglucosamine sulfohydrolase [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
ORDO relation(s)
- Mucopolysaccharidosis type 3 [ORDO Disease]
Record concept(s)
- MPS III A [MeSH concept]
- MPS III B [MeSH concept]
- MPS III C [MeSH concept]
- MPS III D [MeSH concept]
- mucopolysaccharidosis III [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucopolysaccharidosis III [MedDRA Preferred Term]
- Mucopolysaccharidosis type 3 [ICD-11 More detail]
- Sanfilippo Syndrome [NCIt concept]
- Sanfilippo syndrome [Disease (Nov.)]
- Sanfilippo syndrome (disorder) [SNOMED CT concept]
- Sanfilippo's syndrome [MedDRA LLT]
- mucopolysaccharidosis III [DO Concept]
- sanfilippo syndrome, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Mucopolysaccharidosis III-A (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis III-B (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis III-C (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis III-D (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis Type IIIA [NCIt concept]
- Mucopolysaccharidosis Type IIIB [NCIt concept]
- Mucopolysaccharidosis Type IIIC [NCIt concept]
- Mucopolysaccharidosis Type IIID [NCIt concept]
- Mucopolysaccharidosis type 3A [ICD-11 More detail]
- Mucopolysaccharidosis type 3B [ICD-11 More detail]
- Mucopolysaccharidosis type 3C [ICD-11 More detail]
- Mucopolysaccharidosis type 3D [ICD-11 More detail]
- Mucopolysaccharidosis, type iiib [OMIM Phenotype]
- Mucopolysaccharidosis, type iiic [OMIM Phenotype]
- Mucopolysaccharidosis, type iiid [OMIM Phenotype]
- Sanfilippo syndrome type B [ORDO Disease]
- Sanfilippo syndrome type C [ORDO Disease]
- Sanfilippo syndrome type D [ORDO Disease]
- mucopolysaccharidosis type IIIa [Disease (Nov.)]
- mucopolysaccharidosis type IIIb [Disease (Nov.)]
- mucopolysaccharidosis type IIIc [Disease (Nov.)]
- mucopolysaccharidosis type IIId [Disease (Nov.)]
- mucopolysaccharidosis, mps-iii-b [SNOMED Notion]
- mucopolysaccharidosis, mps-iii-c [SNOMED Notion]
- mucopolysaccharidosis, mps-iii-d [SNOMED Notion]
Validated automatic mappings to NTBT
- Mucopolysaccharidosis [MedDRA Preferred Term]
- Mucopolysaccharidosis [ORDO Disease]
- Mucopolysaccharidosis (disorder) [SNOMED CT concept]
- mucopolysaccharidosis, nos [SNOMED Notion]

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