SNOMED CT

Last uploaded: January 31, 2024
Preferred Name

Complete trisomy 21 syndrome

Synonyms

T21 - Trisomy 21

Down syndrome

Complete trisomy 21 syndrome (disorder)

Downs syndrome

ID

http://purl.bioontology.org/ontology/SNOMEDCT/41040004

Active

1

altLabel

T21 - Trisomy 21

Down syndrome

Complete trisomy 21 syndrome (disorder)

Downs syndrome

Associated finding of

http://purl.bioontology.org/ontology/SNOMEDCT/281022002

http://purl.bioontology.org/ontology/SNOMEDCT/408338009

http://purl.bioontology.org/ontology/SNOMEDCT/415683005

CASE SIGNIFICANCE ID

900000000000020002

900000000000448009

900000000000017005

Cause of

http://purl.bioontology.org/ontology/SNOMEDCT/733194007

CTV3ID

XE1MZ

cui

C0013080

DEFINITION STATUS ID

900000000000074008

Effective time

20020131

Focus of

http://purl.bioontology.org/ontology/SNOMEDCT/315115008

http://purl.bioontology.org/ontology/SNOMEDCT/268474007

Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/78989007

Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/43009003

Has pathological process

http://purl.bioontology.org/ontology/SNOMEDCT/308490002

notation

41040004

Occurs in

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

prefLabel

Complete trisomy 21 syndrome

Subset member

6011000124106~MAPRULE~IFA 724644005 | Myeloid leukemia associated with Down syndrome |

6011000124106~MAPTARGET~Q90.0

447562003~MAPRULE~TRUE

6011000124106~MAPRULE~IFA 205616004 | Trisomy 21- mitotic nondisjunction mosaicism |

6011000124106~MAPTARGET~K05.30

6011000124106~MAPTARGET~Q90.9

6011000124106~MAPPRIORITY~7

6011000124106~MAPPRIORITY~4

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

6011000124106~MAPADVICE~IF MYELOID LEUKEMIA ASSOCIATED WITH DOWN SYNDROME CHOOSE C92.90 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF DOWN SYNDROME CO-OCCURRENT WITH LEUKEMOID REACTION ASSOCIATED TRANSIENT NEONATAL PUSTULOSIS CHOOSE Q90.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF TRISOMY 21- MITOTIC NONDISJUNCTION MOSAICISM CHOOSE Q90.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~

6011000124106~MAPCATEGORYID~447638001

6011000124106~MAPTARGET~D72.823

6011000124106~MAPGROUP~1

6011000124106~MAPGROUP~2

6011000124106~MAPRULE~IFA 709469005 | Periodontitis co-occurrent with Down syndrome |

6011000124106~MAPRULE~IFA 724644005 | Myeloid leukemia co-occurrent with Down syndrome |

6011000124106~MAPPRIORITY~8

6011000124106~MAPTARGET~Q90.2

900000000000508004~ACCEPTABILITYID~900000000000549004

6011000124106~MAPRULE~IFA 125501000119105 | Fetus with complete trisomy 21 syndrome (disorder) |

447562003~MAPGROUP~1

447562003~CORRELATIONID~447561005

6011000124106~MAPRULE~IFA 205615000 | Trisomy 21- meiotic nondisjunction (disorder) |

447562003~MAPRULE~OTHERWISE TRUE

447562003~MAPRULE~IFA 205615000 | Trisomy 21- meiotic nondisjunction (disorder) |

6011000124106~MAPCATEGORYID~447637006

6011000124106~MAPADVICE~IF TRANSLOCATION DOWN SYNDROME CHOOSE Q90.2 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~O35.1XX0

900000000000509007~ACCEPTABILITYID~900000000000548007

6011000124106~MAPADVICE~IF DOWN SYNDROME CO-OCCURRENT WITH LEUKEMOID REACTION ASSOCIATED TRANSIENT NEONATAL PUSTULOSIS CHOOSE P83.88 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000497000~MAPTARGET~XE1MZ

6011000124106~MAPRULE~IFA 205615000 | Trisomy 21- meiotic nondisjunction |

6011000124106~MAPADVICE~IF MYELOID LEUKEMIA CO-OCCURRENT WITH DOWN SYNDROME CHOOSE C92.90 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000508004~ACCEPTABILITYID~900000000000548007

6011000124106~MAPADVICE~IF DEMENTIA WITH DOWN SYNDROME CHOOSE F03.90 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~IFA 733194007 | Dementia with Down syndrome |

6011000124106~MAPADVICE~IF MYELOID LEUKEMIA CO-OCCURRENT WITH DOWN SYNDROME CHOOSE Q90.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPTARGET~Q90.9

447562003~MAPADVICE~IF TRISOMY 21- MEIOTIC NONDISJUNCTION CHOOSE Q90.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPPRIORITY~1

6011000124106~MAPADVICE~IF PERIODONTITIS CO-OCCURRENT WITH DOWN SYNDROME CHOOSE K05.30 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPTARGET~Q90.0

6011000124106~MAPRULE~IFA 724643004 | Transient abnormal myelopoiesis co-occurrent with Down syndrome |

447562003~MAPCATEGORYID~447637006

6011000124106~MAPADVICE~IF PERIODONTITIS CO-OCCURRENT WITH DOWN SYNDROME CHOOSE Q90.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF MYELOID LEUKEMIA ASSOCIATED WITH DOWN SYNDROME CHOOSE Q90.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF FETUS WITH COMPLETE TRISOMY 21 SYNDROME CHOOSE O35.1XX0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | CONSIDER WHICH FETUS IS AFFECTED BY THE MATERNAL CONDITION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~OTHERWISE TRUE

6011000124106~MAPPRIORITY~5

6011000124106~MAPTARGET~F03.90

6011000124106~MAPTARGET~D75.89

6011000124106~MAPRULE~IFA 371045000 | Translocation Down syndrome |

6011000124106~MAPADVICE~IF DOWN SYNDROME CO-OCCURRENT WITH LEUKEMOID REACTION ASSOCIATED TRANSIENT NEONATAL PUSTULOSIS CHOOSE D72.823 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~IFA 709469005 | Periodontitis co-occurrent with Down syndrome (disorder) |

6011000124106~MAPCATEGORYID~447639009

447562003~MAPADVICE~ALWAYS Q90.9

6011000124106~MAPTARGET~C92.90

6011000124106~MAPTARGET~Q90.1

6011000124106~MAPRULE~IFA 125501000119105 | Fetus with complete trisomy 21 syndrome |

6011000124106~MAPTARGET~P83.88

6011000124106~MAPADVICE~IF DEMENTIA WITH DOWN SYNDROME CHOOSE Q90.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPCATEGORYID~447639009

6011000124106~MAPPRIORITY~1

6011000124106~MAPRULE~IFA 840505007 | Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis |

6011000124106~MAPPRIORITY~6

6011000124106~CORRELATIONID~447561005

6011000124106~MAPADVICE~ALWAYS Q90.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE

6011000124106~MAPADVICE~IF TRISOMY 21- MEIOTIC NONDISJUNCTION CHOOSE Q90.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPPRIORITY~2

6011000124106~MAPGROUP~3

6011000124106~MAPPRIORITY~3

900000000000509007~ACCEPTABILITYID~900000000000549004

6011000124106~MAPADVICE~IF TRANSIENT ABNORMAL MYELOPOIESIS CO-OCCURRENT WITH DOWN SYNDROME CHOOSE D75.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPPRIORITY~2

6011000124106~MAPADVICE~IF TRANSIENT ABNORMAL MYELOPOIESIS CO-OCCURRENT WITH DOWN SYNDROME CHOOSE Q90.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

tui

T047

Type ID

900000000000003001

900000000000013009

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/270521004

http://purl.bioontology.org/ontology/SNOMEDCT/70156005

http://purl.bioontology.org/ontology/SNOMEDCT/276654001

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/Q90 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10027816 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10013616 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10027816 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D4-02214 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10044688 MDRGER CUI
http://purl.bioontology.org/ontology/ICD9CM/758.0 ICD9CM CUI
http://purl.bioontology.org/ontology/ICD10/Q90 ICD10 CUI
http://purl.bioontology.org/ontology/ICD10/Q90.9 ICD10 CUI
http://purl.bioontology.org/ontology/MEDDRA/10044688 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/737542000 SCTSPA CUI
http://purl.bioontology.org/ontology/WHOFRE/0697 WHOFRE CUI
http://purl.bioontology.org/ontology/LNC/LP74785-4 LOINC CUI
http://purl.bioontology.org/ontology/MDRGER/10027816 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/Q90.9 ICD10CM CUI
http://purl.bioontology.org/ontology/CST/MENTAL%20RETARD COSTART CUI
http://purl.bioontology.org/ontology/ICPC2P/A90001 ICPC2P CUI
http://purl.bioontology.org/ontology/MESH/D004314 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10013616 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D004314 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013080 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MDRFRE/10044688 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/41040004 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000996 NDFRT CUI
http://purl.bioontology.org/ontology/WHO/0697 WHO-ART CUI
http://purl.bioontology.org/ontology/MDRGER/10042801 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10042801 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/190685 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10013616 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/XE1MZ RCD CUI
http://purl.bioontology.org/ontology/LNC/MTHU020584 LOINC CUI
http://purl.bioontology.org/ontology/LNC/MTHU010201 LOINC CUI
http://purl.bioontology.org/ontology/MDRFRE/10042801 MDRFRE CUI
http://purl.bioontology.org/ontology/CSP/1254-8068 CRISP CUI
http://purl.bioontology.org/ontology/LNC/LA20088-3 LOINC CUI
http://purl.bioontology.org/ontology/SNMI/D4-02214 SNMI LOOM
http://purl.obolibrary.org/obo/NCIT_C101222 BERO LOOM
http://purl.bioontology.org/ontology/HL7/C4521042 HL7 LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Complete_Trisomy_21_Syndrome PEDTERM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101222 NCIT LOOM
http://www.limics.fr/ontologies/ontolurgences#SyndromeDeTrisomie21 ONTOLURGENCES LOOM
http://purl.bioontology.org/ontology/LNC/LA29645-1 LOINC LOOM