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Hereditary spherocytosis (CUI C0037889) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0037889

NCI Thesaurus Code: C97074  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly.

MSH Definition: A group of familial congenital hemolytic anemias characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.

NICHD Definition: An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes, resulting in hemolytic anemia and splenomegaly. Mutations in ANK1 account for over half of the cases.

CSP Definition: autosomal dominant trait marked by splenomegaly, jaundice, and fragile, spheroid erythrocytes which are prematurely cleared by the spleen; anemia is usually mild; treatment is splenectomy.

Synonyms & Abbreviations: (see Synonym Details)
Acholuric (familial) jaundice
ANAEMIA SPHEROCYTIC
Anemia spherocytic
ANEMIA, HEMOLYTIC, HEREDITARY SPHEROCYTIC
Congenital spherocytic haemolytic anaemia
Congenital spherocytic hemolytic anemia
CONGENITAL SPHEROCYTOSIS
Familial acholuric jaundice
Familial spherocytosis
Hereditary Spherocytoses
Hereditary spherocytosis (disorder)
Hereditary Spherocytosis
HS - Hereditary spherocytosis
Minkowski Chauffard syndrome
MINKOWSKI-CHAUFFARD SYNDROME
Minkowsky-Chauffard syndrome
Spherocytic anaemia
spherocytic anemia
spherocytic hemolytic anemia
Spherocytoses, Hereditary
Spherocytosis, Hereditary [Disease/Finding]
SPHEROCYTOSIS, HEREDITARY

External Source Codes: 
NCI Thesaurus Code C97074 (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
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID D100. SNOMEDCT_US
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 0427-1870 CSP
DX 19660101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D000756 MSH
FX D001457 MSH
IAN DEFAULT ICD10
ICE Acholuric (familial) jaundice; Congenital hemolytic anemia (spherocytic); Congenital spherocytosis; Minkowski-Chauffard syndrome; Spherocytosis (familial) ICD9CM
INCLUSION_TERM Acholuric (familial) jaundice ICD10
INCLUSION_TERM Congenital (spherocytic) haemolytic icterus ICD10
INCLUSION_TERM Minkowski-Chauffard syndrome ICD10
MDA 19990101 MSH
MESH_DEFINITION A group of familial congenital hemolytic anemias characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions. NDFRT
MESH_DUI D013103 NDFRT
MESH_NAME Spherocytosis, Hereditary NDFRT
MESH_UI M0020294 NDFRT
MMR 20130708 MSH
MN C15.378.071.141.150.785 MSH
MN C16.320.070.785 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Hereditary Spherocytosis NCI
NUI N0000002790 NDFRT
ORDER_NO 03398 ICD10CM
PRIMARY_PATH 10019904$10018848$10005330$10010331$Hereditary spherocytosis$Haematological disorders congenital NEC$Blood and lymphatic system disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_PATH 10041509$10038185$10018911$10005329$Spherocytic anaemia$Red cell membrane and enzyme abnormalities$Haemolyses and related conditions$Blood and lymphatic system disorders MDR
PRIMARY_SOC 10005329 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
RXAUI 3239603 RXNORM
RXAUI 3239604 RXNORM
RXCUI 1024844 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 55995005 NDFRT
SNOMEDID DC-15100 SNOMEDCT_US
SOS Excludes: hemolytic anemia of newborn (773.0-773.5) ICD9CM
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS D58.0 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~D58.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS D58.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF HEREDITARY SPHEROCYTOSIS DUE TO BETA SPECTRIN DEFECT CHOOSE R71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF HEREDITARY SPHEROCYTOSIS DUE TO DEFICIENCY OF PROTEIN 4.2 CHOOSE R71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF HEREDITARY SPHEROCYTOSIS DUE TO SPECTRIN DEFICIENCY CHOOSE R71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447638001 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 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~MAPRULE~IFA 25266006 | Hereditary spherocytosis due to spectrin deficiency (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 33905008 | Hereditary spherocytosis due to deficiency of protein 4.2 (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 69981004 | Hereditary spherocytosis due to beta spectrin defect (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~D58.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~R71.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~D100. SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~DC-15100 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 T038564 MSH
TH NLM (1966) MSH
TH OMIM (2013) 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=C0037889

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