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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 (finding)\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 (finding)\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 foetus and/or newborn\Congenital disease\Congenital anemia
\Disease\Disorder of cellular component of blood (disorder)\Anemia\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	Haematopoietic system structure	false	Inferred relationship	Some
Congenital anemia	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Congenital anemia	Has definitional manifestation	Erytrocytopeni	false	Inferred relationship	Some
Congenital anemia	Is a	Congenital disease	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
kongenit anæmi på grund af føtalt blodtab	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
hereditær sideroblastanæmi	Is a	False	Congenital anemia	Inferred relationship	Some
HNSHA forårsaget af NADH-methæmoglobinreductasemangel	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
kongenit isoleret pure red cell-aplasi	Is a	False	Congenital anemia	Inferred relationship	Some
kongenit erytrocytær hypoplasi	Is a	False	Congenital anemia	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	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 atransferrinaemia	Is a	False	Congenital anemia	Inferred relationship	Some
Congenital hemolytic uremic syndrome (disorder)	Is a	True	Congenital anemia	Inferred relationship	Some
Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.	Is a	False	Congenital anemia	Inferred relationship	Some
A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995.	Is a	True	Congenital anemia	Inferred relationship	Some
Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.	Is a	False	Congenital anemia	Inferred relationship	Some
Thalassemia	Is a	False	Congenital anemia	Inferred relationship	Some
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	Some
A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness.	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
Kongenit trombocytopenisk purpura	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
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.	Is a	True	Congenital anemia	Inferred relationship	Some
Thalassemia in mother complicating pregnancy	Is a	True	Congenital anemia	Inferred relationship	Some
A severe form of alpha-thalassemia that is mostly lethal, and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. Caused by deletion or inactivation of all four alpha-globin alleles leading to a severe deficiency in alpha-globin chains of Hb, and to the production of gamma-4 tetramers (Hb Bart's) during fetal life, and beta-4 tetramers (HbH) postnatally. Hb Bart's and HbH have increased oxygen affinity resulting in ineffective tissue oxygen delivery. The disease is mostly the result of combined, biallelic deletions in the HBA1 and HBA2 genes (16p13.3). The pattern of inheritance is autosomal recessive.	Is a	True	Congenital anemia	Inferred relationship	Some
A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia.	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

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
2006281000005114	Kongenit anæmi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)