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alpha-Mannosidosis (CUI C0024748) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0024748

NCI Thesaurus Code: C84548  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An autosomal recessive lysosomal storage disease characterized by deficient activity of the enzyme alpha-D-mannosidase. There is a wide range of signs and symptoms including hepatomegaly, splenomegaly, hearing loss, respiratory infections, mental retardation, skeletal abnormalities, leveled nasal bridge and protruding forehead.

MSH Definition: An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.

Synonyms & Abbreviations: (see Synonym Details)
Alpha mannosidase B deficiency
alpha Mannosidase Deficiency
alpha Mannosidosis
alpha-D-Mannosidase Deficiencies, Lysosomal
alpha-D-Mannosidase Deficiency, Lysosomal
Alpha-D-Mannosidosis
Alpha-Mannosidase B Deficiency
alpha-Mannosidase Deficiencies
alpha-Mannosidase Deficiency
alpha-Mannosidoses
alpha-Mannosidosis [Disease/Finding]
Alpha-mannosidosis type 1
Alpha-Mannosidosis, Type I
Alpha-mannosidosis
Deficiencies, alpha-Mannosidase
Deficiencies, Lysosomal alpha-D-Mannosidase
Deficiency of alpha-mannosidase (disorder)
Deficiency of alpha-mannosidase
Deficiency, alpha-Mannosidase
Deficiency, Lysosomal alpha-D-Mannosidase
Lysosomal Alpha B Mannosidosis
Lysosomal alpha D Mannosidase Deficiency
Lysosomal alpha-D-Mannosidase Deficiencies
Lysosomal alpha-D-mannosidase deficiency
Mannosidosis, alpha B lysosomal
Mannosidosis, alpha B, Lysosomal
MANSA

External Source Codes: 
NCI Thesaurus Code C84548 (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
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
Contributing_Source CTRP NCI
CTV3ID XU6DS 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
DISEASE_IDENTIFIER_ID 33424 GARD
DISEASE_IDENTIFIER_ID 4655 GARD
DISEASE_IDENTIFIER_ID 4656 GARD
DISEASE_IDENTIFIER_ID 4657 GARD
DX 19850101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FR 0 MSH
FX D043323 MSH
GENELOCUS ,1,9,c,e,n,-,q,1,2, OMIM
GENESYMBOL MAN2B1 OMIM
GENESYMBOL MANB OMIM
HAS_GARD_PAGE true GARD
HM D008363 MSH
HN 2004(1985) 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 2008-12-31T00:00:00 GARD
MDA 19840529 MSH
MDA 20100825 MSH
MESH_DEFINITION An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder. NDFRT
MESH_DUI D008363 NDFRT
MESH_NAME alpha-Mannosidosis NDFRT
MESH_UI M0013006 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C16.320.565.202.607.500 MSH
MN C16.320.565.595.577.500 MSH
MN C18.452.648.202.607.500 MSH
MN C18.452.648.595.577.500 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001940 NDFRT
PM 2004; see MANNOSIDOSIS 1984-2003 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6968/alpha-mannosidosis-type-1/resources/1 GARD
RN 0 MSH
RXAUI 3196635 RXNORM
RXAUI 3258445 RXNORM
RXAUI 3258449 RXNORM
RXAUI 3258450 RXNORM
RXAUI 3287948 RXNORM
RXAUI 3287993 RXNORM
RXAUI 3288967 RXNORM
RXAUI 5038625 RXNORM
RXAUI 5038626 RXNORM
RXAUI 5930165 RXNORM
RXAUI 5931377 RXNORM
RXCUI 1022087 RXNORM
SC 3 MSH
SNOMED_CID 124466001 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E88.0 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE 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~E88.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E74.8 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~E74.8 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XU6DS 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 T534621 MSH
TERMUI T534637 MSH
TERMUI T534705 MSH
TERMUI T739800 MSH
TERMUI T751318 MSH
TERMUI T751402 MSH
TERMUI T751403 MSH
TERMUI T811735 MSH
TERMUI T811736 MSH
TERMUI T840864 MSH
TERMUI T840865 MSH
TH GHR (2014) MSH
TH NLM (2004) MSH
TH NLM (2010) MSH
TH OMIM (2013) MSH
TH ORD (2010) 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=C0024748

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