About: Congenital Neutropenia     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Congenital Neutropenia
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Congenital Neutropenia
UMLS_CUI
  • C0340970
ALT_DEFINITION
  • An inherited disorder in which there is a lower-than-normal number of neutrophils (a type of white blood cell that is important in fighting infections). Infants with the disorder get infections caused by bacteria, and are at an increased risk of acute myelogenous leukemia (AML) or myelodysplasia (a bone marrow disorder).NCI-GLOSS
Legacy_Concept_Name
  • Congenital_Neutropenia
FULL_SYN
  • Congenital NeutropeniaPTNCI
  • Kostmann syndromePTNCI-GLOSSCDR0000644747
  • Kostmann DiseaseSYNCI
  • genetic infantile agranulocytosisPTNCI-GLOSSCDR0000661341
  • infantile genetic agranulocytosisPTNCI-GLOSSCDR0000661340
  • Kostmann neutropeniaPTNCI-GLOSSCDR0000644750
  • congenital neutropeniaPTNCI-GLOSSCDR0000644749
  • Kostmann diseasePTNCI-GLOSSCDR0000644748
DEFINITION
  • A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.NCI
code
  • C61242
Faceted Search & Find service v1.16.118 as of Jun 21 2024


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 48 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software