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Hemoglobinopathy (CUI C0019045) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0019045

NCI Thesaurus Code: C3092  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.

NICHD Definition: An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.

CSP Definition: group of inherited disorders characterized by structural alterations within the hemoglobin molecule.

MSH Definition: A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.

Synonyms & Abbreviations: (see Synonym Details)
Globin abnormality
Haemoglobin disease
Haemoglobin disorder
Haemoglobinopathies congenital
Haemoglobinopathies
Haemoglobinopathy NOS
Haemoglobinopathy
Hemoglobin disease
hemoglobin disorders
HEMOGLOBIN DISORDER
Hemoglobinopathies / Iron Metabolism
Hemoglobinopathies [Disease/Finding]
Hemoglobinopathies congenital
hemoglobinopathies
Hemoglobinopathy (disorder)
Hemoglobinopathy NOS
Hemoglobinopathy

External Source Codes: 
NCI Thesaurus Code C3092 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN do not confuse with HEMOGLOBINS, ABNORMAL (D12): use term in the text; coord IM with specific abnormal hemoglobin (IM) but HEMOGLOBIN C DISEASE; THALASSEMIA (hemoglobin H disease) & ANEMIA, SICKLE CELL (hemoglobin S disease) 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 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID X20Ci SNOMEDCT_US
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1418-5657 CSP
DX 19680101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EXTERNALLY_DEFINED N LNC
FX D006455 MSH
GLOBAL_ID 80141007 LNC
GLOBAL_ID_CODE_SYSTEM SCT LNC
HAS_GARD_PAGE true GARD
HN 68 MSH
IS_RARE false GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Related Disease Added GARD
MDA 19990101 MSH
MESH_DEFINITION A group of inherited disorders characterized by structural alterations within the hemoglobin molecule. NDFRT
MESH_DUI D006453 NDFRT
MESH_NAME Hemoglobinopathies NDFRT
MESH_UI M0010129 NDFRT
MMR 20010725 MSH
MN C15.378.420 MSH
MN C16.320.365 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Hemoglobinopathy NCI
NUI N0000001472 NDFRT
PM 68 MSH
PRIMARY_PATH 10060892$10018903$10005330$10010331$Haemoglobinopathy$Haemoglobinopathies congenital$Blood and lymphatic system 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
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/12455/hemoglobinopathy/resources/1 GARD
RXAUI 3171787 RXNORM
RXAUI 3171788 RXNORM
RXCUI 1023547 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 80141007 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS D58.2 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~D58.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS D58.2 | DESCENDANTS NOT EXHAUSTIVELY MAPPED 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~D58.2 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X20Ci 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 T019485 MSH
TH NLM (1968) 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=C0019045

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