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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/719453009
http://purl.bioontology.org/ontology/SNOMEDCT/719453009
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|---|---|
| Preferred Name | Congenital dyserythropoietic anemia type IV |
| Definitions |
Congenital dyserythropoietic anaemia type IV (CDA IV) is a newly discovered form of CDA characterised by ineffective erythropoiesis and haemolysis that leads to severe anaemia at birth.
A newly discovered form of congenital dyserythropoietic anaemia characterised by ineffective erythropoiesis and haemolysis that leads to severe anaemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner.
A newly discovered form of congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner.
Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.
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| Synonyms |
Congenital dyserythropoietic anemia type IV (disorder)
Congenital dyserythropoietic anaemia type IV
Congenital dyserythropoietic anaemia type 4
Congenital dyserythropoietic anemia type 4
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Congenital dyserythropoietic anaemia type IV (CDA IV) is a newly discovered form of CDA characterised by ineffective erythropoiesis and haemolysis that leads to severe anaemia at birth. A newly discovered form of congenital dyserythropoietic anaemia characterised by ineffective erythropoiesis and haemolysis that leads to severe anaemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner. A newly discovered form of congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner. Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. |
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| altLabel |
Congenital dyserythropoietic anemia type IV (disorder)
Congenital dyserythropoietic anaemia type IV
Congenital dyserythropoietic anaemia type 4
Congenital dyserythropoietic anemia type 4
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| prefLabel | Congenital dyserythropoietic anemia type IV
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID |
900000000000020002
900000000000448009
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| notation | 719453009
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| Due to | |
| Effective time | 20170131
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| Active | 1
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| Has finding site | |
| interprets | |
| subClassOf | |
| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
447562003~MAPTARGET~D64.4
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS D64.4
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPTARGET~D64.4
900000000000497000~MAPTARGET~XUtxK
447562003~MAPADVICE~ALWAYS D64.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUtxK
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| Occurs in | |
| cui | C3150926
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