SNOMED CT

Last uploaded: January 31, 2024
Preferred Name

Congenital dyserythropoietic anemia

Synonyms

CDA - congenital dyserythropoietic anaemia

Congenital dyserythropoietic anemia (disorder)

ID

http://purl.bioontology.org/ontology/SNOMEDCT/52951008

Active

1

altLabel

CDA - congenital dyserythropoietic anaemia

Congenital dyserythropoietic anaemia

CDA - congenital dyserythropoietic anemia

Congenital dyserythropoietic anemia (disorder)

CASE SIGNIFICANCE ID

900000000000020002

900000000000448009

900000000000017005

CTV3ID

XE13y

cui

C0002876

DEFINITION STATUS ID

900000000000074008

Due to

http://purl.bioontology.org/ontology/SNOMEDCT/18469004

Effective time

20020131

Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/41898006

Has interpretation

http://purl.bioontology.org/ontology/SNOMEDCT/281300000

INACTIVATION INDICATOR

723277005

interprets

http://purl.bioontology.org/ontology/SNOMEDCT/441689006

http://purl.bioontology.org/ontology/SNOMEDCT/14089001

notation

52951008

Occurs in

http://purl.bioontology.org/ontology/SNOMEDCT/255399007

prefLabel

Congenital dyserythropoietic anemia

Subset member

6011000124106~MAPRULE~IFA 722207000 | Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome |

6011000124106~MAPRULE~IFA 722475006 | X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) |

6011000124106~MAPADVICE~IF X-LINKED CONGENITAL DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA CHOOSE D64.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~IFA 703540008 | Majeed syndrome |

447562003~MAPRULE~TRUE

6011000124106~MAPADVICE~IF PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, CALVARIAL HYPEROSTOSIS SYNDROME CHOOSE Q75.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~IFA 782759001 | X-linked dyserythropoietic anemia with abnormal platelets and neutropenia |

6011000124106~MAPADVICE~IF X-LINKED CONGENITAL DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA CHOOSE D69.42 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF X-LINKED DYSERYTHROPOIETIC ANEMIA WITH ABNORMAL PLATELETS AND NEUTROPENIA CHOOSE D70.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000490003~VALUEID~723277005

6011000124106~MAPPRIORITY~4

6011000124106~MAPADVICE~IF MAJEED SYNDROME CHOOSE M04.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~K86.89

6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA

6011000124106~MAPADVICE~IF PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, CALVARIAL HYPEROSTOSIS SYNDROME CHOOSE D64.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~

6011000124106~MAPCATEGORYID~447638001

6011000124106~MAPGROUP~1

6011000124106~MAPGROUP~2

447562003~MAPTARGET~D64.4

6011000124106~MAPRULE~IFA 722475006 | X-linked congenital dyserythropoietic anemia with thrombocytopenia |

900000000000508004~ACCEPTABILITYID~900000000000549004

6011000124106~MAPTARGET~D69.42

6011000124106~MAPRULE~IFA 722207000 | Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) |

447562003~MAPGROUP~1

447562003~CORRELATIONID~447561005

6011000124106~MAPTARGET~Q75.8

6011000124106~MAPCATEGORYID~447637006

6011000124106~MAPADVICE~IF X-LINKED DYSERYTHROPOIETIC ANEMIA WITH ABNORMAL PLATELETS AND NEUTROPENIA CHOOSE D64.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, CALVARIAL HYPEROSTOSIS SYNDROME CHOOSE K86.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000497000~MAPTARGET~XE13y

900000000000508004~ACCEPTABILITYID~900000000000548007

6011000124106~MAPADVICE~ALWAYS D64.4

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

6011000124106~MAPTARGET~D64.4

6011000124106~MAPRULE~OTHERWISE TRUE

6011000124106~MAPPRIORITY~5

6011000124106~MAPTARGET~M04.8

6011000124106~MAPCATEGORYID~447639009

6011000124106~MAPADVICE~IF X-LINKED DYSERYTHROPOIETIC ANEMIA WITH ABNORMAL PLATELETS AND NEUTROPENIA CHOOSE D69.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPPRIORITY~1

6011000124106~MAPTARGET~D70.0

6011000124106~CORRELATIONID~447561005

6011000124106~MAPGROUP~3

6011000124106~MAPPRIORITY~3

447562003~MAPADVICE~ALWAYS D64.4

900000000000509007~ACCEPTABILITYID~900000000000549004

6011000124106~MAPTARGET~D69.1

6011000124106~MAPPRIORITY~2

tui

T047

Type ID

900000000000003001

900000000000013009

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/59106005

http://purl.bioontology.org/ontology/SNOMEDCT/63565007

http://purl.bioontology.org/ontology/SNOMEDCT/414394009

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/D64.4 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/DC-11900 SNMI CUI
http://purl.bioontology.org/ontology/ICD10/D64.4 ICD10 CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000386 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10081467 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10081467 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/52951008 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10081457 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10081457 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10081457 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D000742 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D000742 MESH CUI
http://purl.bioontology.org/ontology/RCD/XE13y RCD CUI
http://purl.bioontology.org/ontology/OMIM/MTHU074604 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10081467 MEDDRA CUI
http://purl.obolibrary.org/obo/MONDO_0019403 MONDO LOOM
http://purl.bioontology.org/ontology/ICD10CM/D64.4 ICD10CM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3565 HRDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200885 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_2100178 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_1338 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1338 DOID LOOM
http://purl.obolibrary.org/obo/DOID_1338 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1338 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1338 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1338 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_1338 FNS-H LOOM
http://www.gamuts.net/entity#congenital_dyserythropoietic_anemia GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0002876 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C84646 BERO LOOM
http://www.orpha.net/ORDO/Orphanet_85 ORDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200615 NANDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1338 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#1122 OCHV LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU074604 OMIM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Congenital_Dyserythropoietic_Anemia CSEO LOOM
http://purl.obolibrary.org/obo/MONDO_0019403 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019403 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019403 DOVES LOOM
http://purl.bioontology.org/ontology/MEDDRA/10081467 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84646 NCIT LOOM
http://www.gamuts.net/entity#congenital_dyserythropoietic_anemia GAMUTS REST