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63565007: Congenital anemia (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia

\Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia
\Disease\Congenital disease (disorder)\Congenital anemia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anemia	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
Congenital anemia	Is a	Anemia	true	Inferred relationship	Some
Congenital anemia	Finding site	Erythrocyte	false	Inferred relationship	Some
Congenital anemia	Occurrence	Congenital	true	Inferred relationship	Some	3
Congenital anemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Congenital anemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Congenital anemia	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Congenital anemia	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Congenital anemia	Is a	Disorder of cellular component of blood (disorder)	false	Inferred relationship	Some
Congenital anemia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Congenital anemia	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Congenital anemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
Congenital anemia	Interprets	Red blood cell count	true	Inferred relationship	Some	2
Congenital anemia	Is a	Hemoglobin below reference range (finding)	true	Inferred relationship	Some
Congenital anemia	Is a	Red blood cell count below reference range	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Physiological anemia of infancy	Is a	True	Congenital anemia	Inferred relationship	Some
Late anaemia of newborn	Is a	True	Congenital anemia	Inferred relationship	Some
Unstable hemoglobin disease	Is a	True	Congenital anemia	Inferred relationship	Some
Fanconi's anemia	Is a	False	Congenital anemia	Inferred relationship	Some
Megaloblastic anemia due to inborn errors of metabolism	Is a	True	Congenital anemia	Inferred relationship	Some
Congenital hemolytic anemia	Is a	True	Congenital anemia	Inferred relationship	Some
Congenital dyserythropoietic anemia	Is a	True	Congenital anemia	Inferred relationship	Some
Anemia following fetal blood loss	Is a	False	Congenital anemia	Inferred relationship	Some
Congenital hypoplastic anemia	Is a	True	Congenital anemia	Inferred relationship	Some
Congenital anemia from fetal blood loss	Is a	False	Congenital anemia	Inferred relationship	Some
[X]Other congenital anemias, not elsewhere classified	Is a	False	Congenital anemia	Inferred relationship	Some
HNSHA due to hexokinase deficiency	Is a	True	Congenital anemia	Inferred relationship	Some
HNSHA due to NADH diaphorase deficiency	Is a	True	Congenital anemia	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Is a	False	Congenital anemia	Inferred relationship	Some
Hereditary sideroblastic anemia	Is a	False	Congenital anemia	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide-methemoglobin reductase deficiency	Is a	False	Congenital anemia	Inferred relationship	Some
Plummer-Vinson syndrome	Is a	False	Congenital anemia	Inferred relationship	Some
Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism	Is a	False	Congenital anemia	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	True	Congenital anemia	Inferred relationship	Some
Congenital folate malabsorption anaemia	Is a	False	Congenital anemia	Inferred relationship	Some
Congenital deficiency of intrinsic factor	Is a	False	Congenital anemia	Inferred relationship	Some
Biermer's congenital pernicious anaemia	Is a	False	Congenital anemia	Inferred relationship	Some
Congenital pure red cell aplasia	Is a	False	Congenital anemia	Inferred relationship	Some
Congenital red cell hypoplasia	Is a	False	Congenital anemia	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Is a	True	Congenital anemia	Inferred relationship	Some
Congenital transferrin deficiency	Is a	True	Congenital anemia	Inferred relationship	Some
Pearson's syndrome	Is a	False	Congenital anemia	Inferred relationship	Some
Congenital atransferrinemia	Is a	False	Congenital anemia	Inferred relationship	Some
Congenital hemolytic uremic syndrome (disorder)	Is a	True	Congenital anemia	Inferred relationship	Some
Autosomal recessive sideroblastic anemia (disorder)	Is a	False	Congenital anemia	Inferred relationship	Some
Lethal hemolytic anemia and genital anomaly syndrome (disorder)	Is a	True	Congenital anemia	Inferred relationship	Some
Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	Is a	False	Congenital anemia	Inferred relationship	Some
Thalassemia	Is a	False	Congenital anemia	Inferred relationship	Some
X chromosome-linked sideroblastic anemia	Is a	True	Congenital anemia	Inferred relationship	Some
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Is a	True	Congenital anemia	Inferred relationship	Some
Sickle cell-hemoglobin SS disease	Is a	False	Congenital anemia	Inferred relationship	Some
Constitutional aplastic anemia	Is a	True	Congenital anemia	Inferred relationship	Some
purpura thrombocytopénique congénital	Is a	False	Congenital anemia	Inferred relationship	Some
Autosomal dominant sideroblastic anemia (disorder)	Is a	False	Congenital anemia	Inferred relationship	Some
Thalassemia in mother complicating childbirth	Is a	True	Congenital anemia	Inferred relationship	Some
Gamma delta beta thalassemia	Is a	True	Congenital anemia	Inferred relationship	Some
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)	Is a	True	Congenital anemia	Inferred relationship	Some
Thalassemia in mother complicating pregnancy	Is a	True	Congenital anemia	Inferred relationship	Some
Haemoglobin Bart's hydrops syndrome	Is a	True	Congenital anemia	Inferred relationship	Some
Alpha thalassemia X-linked intellectual disability syndrome (disorder)	Is a	True	Congenital anemia	Inferred relationship	Some
Epsilon gamma delta beta^0^ thalassemia	Is a	True	Congenital anemia	Inferred relationship	Some
Alpha plus thalassemia non deletion type (disorder)	Is a	True	Congenital anemia	Inferred relationship	Some
Alpha plus thalassaemia deletion type	Is a	True	Congenital anemia	Inferred relationship	Some

Reference Sets

Belgian GP subset (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
105647010	Congenital anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
499626019	Congenital anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
802862013	Congenital anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
414251000172118	anémie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
433321000172110	congenitale anemie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)