70156005: Anomaly of chromosome pair 21 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 21

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 21

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

116517019 Anomaly of chromosome pair 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

810181019 Anomaly of chromosome pair 21 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

116517019 Anomaly of chromosome pair 21 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

116517019 Anomaly of chromosome pair 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

810181019 Anomaly of chromosome pair 21 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

810181019 Anomaly of chromosome pair 21 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1001041000172116 anomalie du chromosome 21 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1001041000172116 anomalie du chromosome 21 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anomaly of chromosome pair 21	Is a	Anomaly of sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 21	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 21	Finding site	Chromosome pair 21	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 21	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 21	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 21	Is a	Anomaly of chromosome pair	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 21	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 21	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 21	Finding site	Chromosome pair 21	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 21	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 21	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 21	Finding site	Chromosome pair 21	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
21q partial trisomy	Is a	False	Anomaly of chromosome pair 21	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy 21 in Down's syndrome	Is a	False	Anomaly of chromosome pair 21	Inferred relationship	Existential restriction modifier (core metadata concept)
21q partial monosomy syndrome (disorder)	Is a	False	Anomaly of chromosome pair 21	Inferred relationship	Existential restriction modifier (core metadata concept)
An autosomal anomaly with characteristics of variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinaemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Existential restriction modifier (core metadata concept)
Complete trisomy 21 syndrome	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Existential restriction modifier (core metadata concept)
Complete monosomy 21 (disorder)	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Existential restriction modifier (core metadata concept)
Translocation Down syndrome (disorder)	Is a	False	Anomaly of chromosome pair 21	Inferred relationship	Existential restriction modifier (core metadata concept)
Trisomy 21- mitotic nondisjunction mosaicism	Is a	False	Anomaly of chromosome pair 21	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 21 (disorder)	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 21	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Existential restriction modifier (core metadata concept)
Tetrasomy 21 (disorder)	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome 21	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 21	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal duplication of chromosome 21	Is a	False	Anomaly of chromosome pair 21	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets