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Mucopolysaccharidosis VI (CUI C0026709) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0026709

NCI Thesaurus Code: C61264  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine-4-sulfatase. It is characterized by organomegaly, short stature, joint stiffness, otitis media, and respiratory illnesses.

CSP Definition: mucopolysaccharidosis with excessive chondroitin sulfate B in urine, characterized by dwarfism and deafness; caused by a deficiency of arylsulfatase B (N-acetylgalactosamine-4-sulfatase).

MSH Definition: Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).

Synonyms & Abbreviations: (see Synonym Details)
ARSB - Arylsulfatase B deficiency
ARSB - Arylsulphatase B deficiency
ARSB Deficiencies
ARSB deficiency
Arylsulfatase B Deficiencies
arylsulfatase B deficiency
Arylsulphatase B deficiency
ASB deficiency
Deficiencies, ARSB
Deficiencies, Arylsulfatase B
Deficiencies, N-Acetylgalactosamine-4-Sulfatase
Deficiency of N-acetylgalactosamine-4-sulfatase (disorder)
Deficiency of N-acetylgalactosamine-4-sulfatase
Deficiency of N-acetylgalactosamine-4-sulphatase
Deficiency, ARSB
Deficiency, Arylsulfatase B
Deficiency, N-Acetylgalactosamine-4-Sulfatase
DWARFISM, POLYDYSTROPHIC
Maroteaux Lamy syndrome
Maroteaux-Lamy disease
Maroteaux-Lamy syndrome (disorder)
MAROTEAUX-LAMY SYNDROME
MPS 6
MPS VI - Mucopolysaccharidosis VI
MPS VI
MPS6
MPSVI
Mucopoly-saccharidosis type VI
Mucopolysaccharidosis 6
Mucopolysaccharidosis chondroitin sulfate B
Mucopolysaccharidosis chondroitin sulphate B
Mucopolysaccharidosis type 6
mucopolysaccharidosis type VI
Mucopolysaccharidosis VI [Disease/Finding]
MUCOPOLYSACCHARIDOSIS VI
Mucopolysaccharidosis, MPS-VI
MUCOPOLYSACCHARIDOSIS, TYPE VI
N-acetylgalactosamine 4-sulfatase deficiency
N-Acetylgalactosamine-4-Sulfatase Deficiencies
N-acetylgalactosamine-4-sulfatase deficiency
N-acetylgalactosamine-4-sulphatase deficiency
Polydystrophic Dwarfism
Syndrome, Maroteaux-Lamy
Type 6, Mucopolysaccharidosis
Type VI, Mucopolysaccharidosis

External Source Codes: 
NCI Thesaurus Code C61264 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
Contributing_Source CTRP NCI
CTV3ID C3756 SNOMEDCT_US
CTV3ID XUFqV SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-6512 CSP
DISEASE_IDENTIFIER_ID 33368 GARD
DISEASE_IDENTIFIER_ID 33369 GARD
DISEASE_IDENTIFIER_ID 33370 GARD
DISEASE_IDENTIFIER_ID 33371 GARD
DISEASE_IDENTIFIER_ID 33372 GARD
DISEASE_IDENTIFIER_ID 4838 GARD
DISEASE_IDENTIFIER_ID 4839 GARD
DISEASE_IDENTIFIER_ID 4840 GARD
DISEASE_IDENTIFIER_ID 4841 GARD
DISEASE_IDENTIFIER_ID 4842 GARD
DISEASE_IDENTIFIER_ID 4843 GARD
DISEASE_IDENTIFIER_ID 4844 GARD
DISEASE_IDENTIFIER_ID 4845 GARD
DX 19910101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,5,q,1,1,-,q,1,3, OMIM
GENESYMBOL ARSB OMIM
GENESYMBOL MPS6 OMIM
HAS_GARD_PAGE true GARD
HN 92; was MUCOPOLYSACCHARIDOSIS 6 1991; was see under MUCOPOLYSACCHARIDOSIS 1975-90 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2007-04-03T00:00:00 GARD
MDA 19741212 MSH
MESH_DEFINITION Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B). NDFRT
MESH_DUI D009087 NDFRT
MESH_NAME Mucopolysaccharidosis VI NDFRT
MESH_UI M0014176 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C16.320.565.202.715.670 MSH
MN C16.320.565.595.600.670 MSH
MN C17.300.550.575.670 MSH
MN C18.452.648.202.715.670 MSH
MN C18.452.648.595.600.670 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000002047 NDFRT
OL use MUCOPOLYSACCHARIDOSIS VI to search MUCOPOLYSACCHARIDOSIS 6 1975-91 MSH
PM 92; was MUCOPOLYSACCHARIDOSIS 6 1991; was see under MUCOPOLYSACCHARIDOSIS 1975-90 MSH
PRIMARY_PATH 10056892$10024579$10027424$10010331$Mucopolysaccharidosis VI$Lysosomal storage disorders$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/7095/mucopolysaccharidosis-type-vi/resources/1 GARD
RXAUI 3196736 RXNORM
RXAUI 3199925 RXNORM
RXAUI 3199939 RXNORM
RXAUI 3199940 RXNORM
RXAUI 3222066 RXNORM
RXAUI 3288051 RXNORM
RXAUI 3605514 RXNORM
RXAUI 3606127 RXNORM
RXAUI 5038540 RXNORM
RXAUI 5039648 RXNORM
RXCUI 985057 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 52677002 NDFRT
SNOMED_CID 69463008 NDFRT
SNOMEDID D6-70250 SNOMEDCT_US
SNOMEDID D6-74511 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E76.2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E76.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E76.29 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E76.29 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~C3756 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUFqV SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D6-70250 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D6-74511 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T027161 MSH
TERMUI T027162 MSH
TERMUI T027163 MSH
TERMUI T027164 MSH
TERMUI T751429 MSH
TERMUI T751430 MSH
TERMUI T751431 MSH
TERMUI T819010 MSH
TERMUI T822995 MSH
TH GHR (2014) MSH
TH NLM (1975) MSH
TH NLM (1992) MSH
TH NLM (2010) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0026709

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