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63565007: Congenital anemia (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Congenital anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia

\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Congenital anaemia

\Disease\Blood disease\Anaemia\Congenital anaemia
\Disease\Congenital disease\Congenital anaemia

Status: current, Defined. Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

105647010 Congenital anemia en Synonym Active Case insensitive SNOMED CT core

499626019 Congenital anaemia en Synonym Active Case insensitive SNOMED CT core

802862013 Congenital anemia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anaemia	Is a	Haemoglobin low	true	Inferred relationship	Some
Congenital anaemia	Is a	RBC count low	true	Inferred relationship	Some
Congenital anaemia	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Congenital anaemia	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Congenital anaemia	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Some
Congenital anaemia	Is a	Anaemia	true	Inferred relationship	Some
Congenital anaemia	Is a	Congenital disease	true	Inferred relationship	Some
Congenital anaemia	Is a	Blood disease	false	Inferred relationship	Some
Congenital anaemia	Finding site	Erythrocyte	false	Inferred relationship	Some
Congenital anaemia	Occurrence	Congenital	true	Inferred relationship	Some	3
Congenital anaemia	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Congenital anaemia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Congenital anaemia	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Congenital anaemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
Congenital anaemia	Interprets	Red blood cell count	true	Inferred relationship	Some	2

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
105647010	Congenital anemia	en	Synonym	Active	Case insensitive	SNOMED CT core
499626019	Congenital anaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
802862013	Congenital anemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core