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41040004: Complete trisomy 21 syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
68470016 Complete trisomy 21 syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
68471017 Down syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
777783010 Complete trisomy 21 syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1229711010 T21 - Trisomy 21 en Synonym Active Only initial character case insensitive SNOMED CT core module
2921053011 Downs syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
598021000000114 Down's syndrome en Synonym Active Entire term case sensitive SNOMED CT United Kingdom Edition 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
Complete trisomy 21 syndrome Is a Anomaly of chromosome pair 21 true Inferred relationship Existential restriction modifier
Complete trisomy 21 syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier
Complete trisomy 21 syndrome Finding site Sex chromosome false Inferred relationship Existential restriction modifier
Complete trisomy 21 syndrome Associated morphology Trisomy true Inferred relationship Existential restriction modifier 1
Complete trisomy 21 syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier 1
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier 2
Complete trisomy 21 syndrome Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 2
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier 1
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier 2
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier 2
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier 1
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier 2
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier 1
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier 2
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier 1
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier 2
Complete trisomy 21 syndrome Finding site Chromosome pair 21 false Inferred relationship Existential restriction modifier 1
Complete trisomy 21 syndrome Associated morphology Trisomy false Inferred relationship Existential restriction modifier 2
Complete trisomy 21 syndrome Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier
Complete trisomy 21 syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Complete trisomy 21 syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier 1
Complete trisomy 21 syndrome Finding site Chromosome pair 21 true Inferred relationship Existential restriction modifier 1
Complete trisomy 21 syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Complete trisomy 21 syndrome Is a Congenital malformation true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Trisomy 21- meiotic nondisjunction Is a True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier
Trisomy 21- mitotic nondisjunction mosaicism Is a True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier
Down's syndrome NOS Is a False Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier
Suspect trisomy 21 fetus Associated finding True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier 1
Family history of complete trisomy 21 syndrome Associated finding False Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier 1
Suspected Downs syndrome Associated finding False Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier 1
Family history of complete trisomy 21 syndrome Associated finding True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier 1
Suspected Downs syndrome Associated finding True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier 1
Down's maternal screening Has focus False Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier
Down's screening - blood test Has focus True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier 3
Downs screening test Has focus True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier 2
Family history of complete trisomy 21 syndrome Associated finding False Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier 1
Suspect trisomy 21 fetus Associated finding False Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier 1
Fetus with complete trisomy 21 syndrome Is a False Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier
Periodontitis co-occurrent with Down syndrome Is a False Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier
Myeloid leukemia co-occurrent with Down syndrome Is a True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier
Transient abnormal myelopoiesis co-occurrent with Down syndrome Is a True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier
Dementia co-occurrent and due to Down syndrome Due to True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier 1
Dementia co-occurrent and due to Down syndrome Is a True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier
Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis Is a True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier
Translocation Down syndrome Is a True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier
Antenatal screening blood test for complete trisomy 21, complete trisomy 18 and complete trisomy 13 syndromes (procedure) Has focus True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier 1
Non-invasive prenatal testing for complete trisomy 21 syndrome screening (procedure) Has focus True Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier 1
Antenatal screening blood test for Down, Edwards and Patau syndromes (procedure) Has focus False Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier 1
Down's syndrome NOS Is a False Complete trisomy 21 syndrome Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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