40888008: Congenital anomaly of the hematopoietic system (disorder)

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

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

\Congenital disease (disorder)\Congenital malformation\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 (disorder)	false	Inferred relationship	Some
Congenital anomaly of the hematopoietic system	Is a	Disorder of haematopoietic 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	kongenital anomali	false	Inferred relationship	Some	1
Congenital anomaly of the hematopoietic system	Associated morphology	kongenital anomali	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	kongenital 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	utvecklingsabnormitet	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 (morphologic abnormality)	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
kongenital 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
brist på muskelfosfofruktokinas	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
Lecithin cholesterol acyltransferase deficiency	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
ärftlig icke-sfärocytär hemolytisk anemi orsakad av aldolas A-brist	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
ärftlig methemoglobinemi, enzymatisk typ	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 syndrom	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-Christian disease	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
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	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
brist på fosfatidylkolinsterol-acyltransferas	Is a	False	Congenital anomaly of the hematopoietic system	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder)	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
ärftlig sideroblastisk anemi	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
aminosyrabristanemi	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
Ghosal hematodiaphyseal dysplasia	Is a	False	Congenital anomaly of the hematopoietic system	Inferred relationship	Some
familjär sea-blue histiocytos	Is a	False	Congenital anomaly of the hematopoietic system	Inferred relationship	Some
kongenital elliptocytos	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
kongenital trombocytopen 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
kongenital leukocytadherensdefekt	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
medfödd isolerad aplasi av röda blodkroppar	Is a	False	Congenital anomaly of the hematopoietic system	Inferred relationship	Some
medfödd hypoplasi av röda blodkroppar	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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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
1896151000052117	kongenital anomali i hematopetiska systemet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)
4852871000052119	medfödd anomali i hematopetiska systemet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)