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Niemann-Pick Diseases (CUI C0028064) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0028064

NCI Thesaurus Code: C61269  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An autosomal recessive inherited lysosomal storage disease characterized by deficiency of sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs, and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia, dystonia, and dementia.

CSP Definition: caused by deficiency of sphingomyelinase, resulting in accumulation of sphingomyelin in the reticuloendothelial system, mental and physical retardation, enlarged liver and spleen, anemia, and blindness.

MSH Definition: A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.

Synonyms & Abbreviations: (see Synonym Details)
HISTIOCYTOSIS, LIPID
LIPIDOSIS, SPHINGOMYELIN
lipoid histiocytosis (classical phosphatide)
Neuronal cholesterol lipidosis
Niemann Pick Diseases
Niemann Pick disease
NIEMANN PICK DIS
Niemann-Pick disease, unspecified
Niemann-Pick Diseases [Disease/Finding]
Niemann-Pick Diseases
NIEMANN-PICK DISEASE
sphingomyelin lipidosis
Sphingomyelin/cholesterol lipidosis (disorder)
Sphingomyelin/Cholesterol Lipidosis
sphingomyelinase deficiency

External Source Codes: 
NCI Thesaurus Code C61269 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN note specific types are available MSH
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 900000000000448009 SNOMEDCT_US
Contributing_Source CTRP NCI
Contributing_Source NICHD NCI
CTV3ID C3272 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-9151 CSP
DISEASE_IDENTIFIER_ID 5007 GARD
DISEASE_IDENTIFIER_ID 5008 GARD
DX 20000101 MSH
EFFECTIVE_TIME 20020731 SNOMEDCT_US
FX D012618 MSH
FX D013108 MSH
HN 2000(1966) MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
MDA 19990101 MSH
MESH_DEFINITION A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences. NDFRT
MESH_DUI D009542 NDFRT
MESH_NAME Niemann-Pick Diseases NDFRT
MESH_UI M0014846 NDFRT
MMR 20130708 MSH
MN C10.228.140.163.100.435.825.700 MSH
MN C15.604.250.410.625 MSH
MN C16.320.565.189.435.825.700 MSH
MN C16.320.565.398.641.803.730 MSH
MN C16.320.565.595.554.825.700 MSH
MN C18.452.132.100.435.825.700 MSH
MN C18.452.584.687.803.730 MSH
MN C18.452.648.189.435.825.700 MSH
MN C18.452.648.398.641.803.730 MSH
MN C18.452.648.595.554.825.700 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Niemann-Pick Disease NCI
NUI N0000002187 NDFRT
ORDER_NO 04641 ICD10CM
ORDER_NO 04647 ICD10CM
PM 2000; see NIEMANN-PICK DISEASE 1966-1999 MSH
PRIMARY_PATH 10029403$10024579$10027424$10010331$Niemann-Pick disease$Lysosomal storage disorders$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 20.0 MDR
PT_IN_VERSION 20.1 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
RXAUI 3206941 RXNORM
RXAUI 3206954 RXNORM
RXAUI 3206955 RXNORM
RXCUI 1022558 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 58459009 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E75.2 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~E75.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E75.249 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF NIEMANN-PICK DISEASE, TYPE A CHOOSE E75.240 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF NIEMANN-PICK DISEASE, TYPE B CHOOSE E75.241 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF NIEMANN-PICK DISEASE, TYPE C CHOOSE E75.242 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF NIEMANN-PICK DISEASE, TYPE D CHOOSE E75.243 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF NIEMANN-PICK DISEASE, TYPE E CHOOSE E75.248 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~6 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 18927009 | Niemann-Pick disease, type D | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 39390005 | Niemann-Pick disease, type B | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 52165006 | Niemann-Pick disease, type A | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 66751000 | Niemann-Pick disease, type C | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 73399005 | Niemann-Pick disease, type E | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E75.240 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E75.241 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E75.242 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E75.243 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E75.248 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E75.249 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~C3272 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 T028436 MSH
TERMUI T365793 MSH
TH GHR (2014) MSH
TH NLM (1966) MSH
TH NLM (2000) 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=C0028064

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