40888008: Congenital anomaly of the hematopoietic system (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of the hematopoietic system

\Disorder of body system\Disorder of hematopoietic structure (disorder)\Congenital anomaly of the hematopoietic system

\Developmental disorder\Congenital malformation\Congenital anomaly of the hematopoietic system

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

Descriptions:

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	Haematopoietic 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	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of the hematopoietic system	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of the hematopoietic system	Finding site	Haematopoietic system structure	false	Inferred relationship	Some	1
Congenital anomaly of the hematopoietic system	Is a	kongenit anomali	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	dysgenese	false	Inferred relationship	Some	2
Congenital anomaly of the hematopoietic system	Finding site	Haematopoietic 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	Haematopoietic 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
Kongenit trombocytopeni	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
muskelphosphofructokinasemangel	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
A rare lipoprotein metabolism disorder characterised clinically by corneal opacities and sometimes renal failure and haemolytic anaemia, and biochemically by severely reduced HDL cholesterol. Age of onset is variable but most patients are diagnosed during adulthood. Two familial forms of LCAT deficiency have been reported: familial LCAT deficiency characterised by corneal opacities, anaemia and renal insufficiency and Fish-eye disease characterised by corneal opacities and sometimes atherosclerosis. LCAT deficiency is caused by deficient or absent catalytic activity of the LCAT enzyme, which catalyses the formation of cholesterol esters in lipoproteins and is encoded by the LCAT gene (16q22.1). Accumulation of unesterified cholesterol in the body for example in the cornea, erythrocytes and kidneys, is thought to underlie the clinical manifestations.	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 atransferrinaemia	Is a	False	Congenital anomaly of the hematopoietic system	Inferred relationship	Some
hereditær non-sfærocytisk hæmolytisk anæmi forårsaget af aldolase A-mangel	Is a	False	Congenital anomaly of the hematopoietic system	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Is a	False	Congenital anomaly of the hematopoietic system	Inferred relationship	Some
Reticular dysgenesis (disorder)	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
Hereditær methæmoglobinæmi, enzymatisk 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
Ivemarks syndom	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
Hand-Schüller-Christians sygdom	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
Phosphatidylcholin-sterol-acyltransferasemangel	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
hereditær sideroblastanæmi	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
aminosyremangelanæmi	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
familiær sea blue-histiocytose	Is a	False	Congenital anomaly of the hematopoietic system	Inferred relationship	Some
Kongenit elliptocytose	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
Kongenit trombocytopenisk purpura	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
Kongenit leukocytadhæsionsmangel	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
kongenit isoleret pure red cell-aplasi	Is a	False	Congenital anomaly of the hematopoietic system	Inferred relationship	Some
kongenit erytrocytær hypoplasi	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

Back to Start

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
4630011000005117	kongenit anomali i det hæmatopoietiske system	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)