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40888008: Congenital anomaly of the hematopoietic system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
68197019 Congenital anomaly of the hematopoietic system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
492821011 Congenital anomaly of the haematopoietic system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
777613014 Congenital anomaly of the hematopoietic system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
921051000195110 anomalia congenita del sistema ematopoietico it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
123231000077110 anomalie congénitale du système hématopoïétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
499271000274117 Angeborene Fehlbildung des hämatopoetischen Systems de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

51 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of the hematopoietic system Is a Congenital disease false Inferred relationship Some
Congenital anomaly of the hematopoietic system Is a Disorder of hematopoietic system false Inferred relationship Some
Congenital anomaly of the hematopoietic system Occurrence Congenital false Inferred relationship Some
Congenital anomaly of the hematopoietic system Finding site Hematopoietic system structure false Inferred relationship Some 1
Congenital anomaly of the hematopoietic system Is a Disorder of hematopoietic structure (disorder) true Inferred relationship Some
Congenital anomaly of the hematopoietic system Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of the hematopoietic system Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of the hematopoietic system Finding site Hematopoietic system structure false Inferred relationship Some 1
Congenital anomaly of the hematopoietic system Is a Congenital anomaly false Inferred relationship Some
Congenital anomaly of the hematopoietic system Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of the hematopoietic system Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of the hematopoietic system Finding site Hematopoietic system structure false Inferred relationship Some 2
Congenital anomaly of the hematopoietic system Is a Congenital malformation true Inferred relationship Some
Congenital anomaly of the hematopoietic system Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of the hematopoietic system Finding site Hematopoietic system structure true Inferred relationship Some 1
Congenital anomaly of the hematopoietic system Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of the hematopoietic system Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
thrombocytopénie congénitale Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Selective malabsorption of cyanocobalamin Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Muscle phosphofructokinase deficiency Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Uridine monophosphate hydrolase deficiency Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Pearson's syndrome Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol. Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Chédiak-Higashi syndrome Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Congenital atransferrinemia Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
HNSHA due to glutathione synthetase deficiency Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Reticular dysgenesis Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Chronic granulomatous disease Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Hereditary methemoglobinemia, enzymatic type Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Erythrocytosis due to cyanotic congenital heart disease Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Bilateral right-sidedness sequence Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Severe combined immunodeficiency due to absent lymphoid stem cells (disorder) Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Wiskott-Aldrich syndrome Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Propionyl-CoA carboxylase deficiency Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
maladie de Hand-Schüller-Christian Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
HNSHA due to hexokinase deficiency Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
HNSHA due to triosephosphate isomerase deficiency Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
HNSHA due to NADH diaphorase deficiency Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Phosphatidylcholine-sterol acyltransferase deficiency Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
HNSHA due to glutathione reductase deficiency Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
HNSHA due to glucose phosphate isomerase deficiency Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Peutz-Jeghers syndrome Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Congenital anomaly of spleen Is a True Congenital anomaly of the hematopoietic system Inferred relationship Some
HNSHA due to phosphoglycerate kinase deficiency Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Hemolytic anemia with emphysema AND cutis laxa Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
HNSHA due to diphosphoglycerate mutase deficiency Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Glucose-6-phosphate dehydrogenase deficiency anemia Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Hereditary sideroblastic anemia Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Congenital anemia Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Amino acid deficiency anemia Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder) Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
X-linked lymphoproliferative syndrome Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Radial aplasia-thrombocytopenia syndrome Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Kasabach-Merritt syndrome Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Shwachman syndrome Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Congenital neutropenia Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Hermansky-Pudlak syndrome Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Congenital immunodeficiency involving the hematopoietic system Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Kernicterus due to isoimmunization Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Acatalasemia Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Severe combined immunodeficiency with reticular dysgenesis (disorder) Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Chronic granulomatous disease (disorder) Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
A rare disorder characterised by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anaemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait. Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Familial sea-blue histiocytosis Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
elliptocytose congénitale Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Congenital transferrin deficiency Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
purpura thrombopénique congénital Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Amegakaryocytic thrombocytopenia with congenital malformation Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Congenital neutrophil actin dysfunction Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Leukozytenadhäsionsdefekt Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Plummer-Vinson syndrome Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Kasabach-Merritt syndrome Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Congenital folate malabsorption anaemia Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Congenital deficiency of intrinsic factor Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Biermer's congenital pernicious anaemia Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Congenital pure red cell aplasia Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Congenital red cell hypoplasia Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Congenital methemoglobinemia Is a False Congenital anomaly of the hematopoietic system Inferred relationship Some
Congenital anomaly of the thymus Is a True Congenital anomaly of the hematopoietic system Inferred relationship Some
Congenital asymmetry of tonsils (disorder) Is a True Congenital anomaly of the hematopoietic system Inferred relationship Some
Congenital hypoplastic anemia Is a True Congenital anomaly of the hematopoietic system Inferred relationship Some
Constitutional aplastic anemia Is a True Congenital anomaly of the hematopoietic system Inferred relationship Some
Congenital pulmonary lymphatic dysplasia syndrome (disorder) Is a True Congenital anomaly of the hematopoietic system Inferred relationship Some

This concept is not in any reference sets

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