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41040004: Complete trisomy 21 syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
68470016 Complete trisomy 21 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
68471017 Down syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
777783010 Complete trisomy 21 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1229711010 T21 - Trisomy 21 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2921053011 Downs syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
68470016 Complete trisomy 21 syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
68470016 Complete trisomy 21 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
68471017 Down syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
68472012 Mongolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
777783010 Complete trisomy 21 syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
777783010 Complete trisomy 21 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1229711010 T21 - Trisomy 21 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2921053011 Downs syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2921053011 Downs syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
670061000274115 Vollständige Trisomie 21 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3434431001000113 Down-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3394526015 trisomie 21 complète fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
92321000172118 syndrome de Down fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3394526015 trisomie 21 complète fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
92321000172118 syndrome de Down fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
670061000274115 Vollständige Trisomie 21 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3434431001000113 Down-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Complete trisomy 21 syndrome Is a Trisomy and partial trisomy of autosome true Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 21 syndrome Is a Anomaly of chromosome pair 21 true Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 21 syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 21 syndrome Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 21 syndrome Associated morphology Trisomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 21 syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 21 syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 21 syndrome Associated morphology Trisomy (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 21 syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 21 syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 21 syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 21 syndrome Finding site Chromosome pair 21 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 21 syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 21 syndrome Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Trisomy 21- meiotic nondisjunction Is a True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 21- mitotic nondisjunction mosaicism Is a True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Down's syndrome NOS Is a False Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Suspect trisomy 21 foetus Associated finding True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept) 1
Family history of complete trisomy 21 syndrome (situation) Associated finding False Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept) 1
Suspected Downs syndrome Associated finding False Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept) 1
Family history of complete trisomy 21 syndrome (situation) Associated finding True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept) 1
Suspected Downs syndrome Associated finding True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept) 1
dépistage de la trisomie 21 chez la mère Has focus False Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Down's screening - blood test (procedure) Has focus True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept) 3
Downs screening test Has focus True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept) 2
Family history of complete trisomy 21 syndrome (situation) Associated finding False Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept) 1
Suspect trisomy 21 foetus Associated finding False Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept) 1
Fetus with complete trisomy 21 syndrome (disorder) Is a False Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Periodontitis co-occurrent with Down syndrome Is a False Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Myeloid leukemia associated with Down syndrome (disorder) Is a True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Transient abnormal myelopoiesis co-occurrent with Down syndrome (disorder) Is a True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Dementia co-occurrent and due to Down syndrome (disorder) Due to True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept) 1
Dementia co-occurrent and due to Down syndrome (disorder) Is a True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis (disorder) Is a True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Translocation Down syndrome (disorder) Is a True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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