70156005: Anomaly of chromosome pair 21 (disorder)

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

\Fetal and/or neonatal disorder\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

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	Some
Anomaly of chromosome pair 21	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 21	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1
Anomaly of chromosome pair 21	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 21	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 21	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 21	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Anomaly of chromosome pair 21	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Anomaly of chromosome pair 21	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1
Anomaly of chromosome pair 21	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 21	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 21	Finding site	Chromosome pair 21	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
21q partial trisomy (disorder)	Is a	False	Anomaly of chromosome pair 21	Inferred relationship	Some
Partial trisomy 21 in Down's syndrome	Is a	False	Anomaly of chromosome pair 21	Inferred relationship	Some
21q partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 21	Inferred relationship	Some
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	Some
Complete trisomy 21 syndrome	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Some
Complete monosomy 21 (disorder)	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Some
Translocation Down syndrome (disorder)	Is a	False	Anomaly of chromosome pair 21	Inferred relationship	Some
Trisomy 21- mitotic nondisjunction mosaicism	Is a	False	Anomaly of chromosome pair 21	Inferred relationship	Some
Deletion of part of chromosome 21 (disorder)	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Some
Partial trisomy of chromosome 21	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Some
Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Hematological malignancies are also associated and may occur earlier than in trisomy 21.	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Some
Paternal uniparental disomy of chromosome 21 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Some
Maternal uniparental disomy of chromosome 21 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Some
Distal duplication of chromosome 21	Is a	False	Anomaly of chromosome pair 21	Inferred relationship	Some

This concept is not in any reference sets