63565007: Congenital anemia (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Congenital anemia

\Procedure related finding\Evaluation finding\...

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

\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital anemia
\Disease\Disorder of cellular component of blood\Anaemia\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 haematopoietic system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anemia	Is a	Anaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anemia	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anemia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital anemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anemia	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anemia	Is a	Congenital disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anemia	Is a	Disorder of cellular component of blood	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital anemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anemia	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital anemia	Is a	Hemoglobin below reference range (finding)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anemia	Is a	Red blood cell count below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Physiological anemia of infancy	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Late anemia of newborn	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Unstable hemoglobin disease	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Megaloblastic anaemia due to inborn errors of metabolism	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital haemolytic anaemia	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Anemia following fetal blood loss	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypoplastic anaemia	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anemia from fetal blood loss	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
[X]Other congenital anemias, not elsewhere classified	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to hexokinase deficiency	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder)	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Glucose-6-phosphate dehydrogenase deficiency anemia	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary sideroblastic anemia	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia (HNSHA) due to reduced nicotinamide adenine dinucleotide (NADH)-methemoglobin reductase deficiency (disorder)	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Plummer-Vinson syndrome	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism (disorder)	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital folate malabsorption anaemia	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital deficiency of intrinsic factor	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Biermer's congenital pernicious anemia	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital pure red cell aplasia	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital red cell hypoplasia	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital transferrin deficiency (disorder)	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Pearson's syndrome	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital atransferrinemia (disorder)	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hemolytic uremic syndrome (disorder)	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive sideroblastic anemia (disorder)	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal hemolytic anemia and genital anomaly syndrome (disorder)	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Beta thalassemia X-linked thrombocytopenia syndrome	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Thalassaemia	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
A constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder)	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hb S disease	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anaemia	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
purpura thrombopénique congénital	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant sideroblastic anemia (disorder)	Is a	False	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Thalassemia in mother complicating childbirth (disorder)	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Gamma delta beta thalassemia	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Thalassemia in mother complicating pregnancy (disorder)	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Haemoglobin Bart's hydrops syndrome	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha thalassemia X-linked intellectual disability syndrome (disorder)	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Epsilon gamma delta beta^0^ thalassemia	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha plus thalassemia non deletion type (disorder)	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha plus thalassemia deletion type	Is a	True	Congenital anemia	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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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
105647010	Congenital anemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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
382531000274115	Angeborene Anämie	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
123341000077113	anémie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
123341000077113	anémie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
382531000274115	Angeborene Anämie	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module