A severe form of sickle cell disease (SCD) characterized by homozygosity for the sickle hemoglobin (HbS) gene and which acutely manifests with severe anemia, susceptibility to severe bacterial infections, and ischemic vasoocclusive accidents (VOA). It is a red cell disease of genetic origin which manifests with hemolytic disease and loss of red cell deformability leading to other occlusive events.

This is just here as a test because I lose it

Term information

database cross reference
  • ICD-10:D57.2 (- BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD10).)
  • MedDRA:10040641 (E (Exact mapping: the two concepts are equivalent))
  • MeSH:D000755 (E (Exact mapping: the two concepts are equivalent))
  • ICD-10:D57.0 (- BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD10).)
  • OMIM:603903 (E (Exact mapping: the two concepts are equivalent))
  • UMLS:C0002895 (E (Exact mapping: the two concepts are equivalent))
  • ICD-10:D57.1 (- BTNT (ORPHA code's Broader Term maps to a Narrower Term). - Specific code (The ORPHA code has its own code in the ICD10).)
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232

hasDbXref

ICD-10:D57.1

ICD-10:D57.0

ICD-10:D57.2

OMIM:603903

MeSH:D000755

UMLS:C0002895

MedDRA:10040641

has age of onset

http://www.orpha.net/ORDO/Orphanet_409950

has birth prevalence average value

47.5

25.0

20.15

42.0

344.8

467.3

32.8

41.7

248.75

has birth prevalence range

http://www.orpha.net/ORDO/Orphanet_409980

http://www.orpha.net/ORDO/Orphanet_409975

has inheritance

http://www.orpha.net/ORDO/Orphanet_409930

has point prevalence range

http://www.orpha.net/ORDO/Orphanet_409975

notation

ORPHA:232

part of

http://www.orpha.net/ORDO/Orphanet_477771

http://www.orpha.net/ORDO/Orphanet_93614

http://www.orpha.net/ORDO/Orphanet_275752

http://www.orpha.net/ORDO/Orphanet_399185

present in

http://www.orpha.net/ORDO/Orphanet_410079

http://www.orpha.net/ORDO/Orphanet_410224

http://www.orpha.net/ORDO/Orphanet_410014

http://www.orpha.net/ORDO/Orphanet_410225

http://www.orpha.net/ORDO/Orphanet_410172

http://www.orpha.net/ORDO/Orphanet_410073

http://www.orpha.net/ORDO/Orphanet_410130

http://www.orpha.net/ORDO/Orphanet_409984

http://www.orpha.net/ORDO/Orphanet_410085

http://www.orpha.net/ORDO/Orphanet_410066

Term relations