13674001: Anomaly of chromosome pair 3 (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 3

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 3

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

23341011 Anomaly of chromosome pair 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

739082012 Anomaly of chromosome pair 3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

926991000172119 anomalie du chromosome 3 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 3	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 3	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 3	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 3	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 3	Finding site	Chromosome pair 3	false	Inferred relationship	Some	1
Anomaly of chromosome pair 3	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 3	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Anomaly of chromosome pair 3	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Anomaly of chromosome pair 3	Finding site	Chromosome pair 3	false	Inferred relationship	Some	1
Anomaly of chromosome pair 3	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 3	Finding site	Chromosome pair 3	true	Inferred relationship	Some	1
Anomaly of chromosome pair 3	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
3p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 3	Inferred relationship	Some
3q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 3	Inferred relationship	Some
3p partial monosomy syndrome (disorder)	Is a	False	Anomaly of chromosome pair 3	Inferred relationship	Some
3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.	Is a	False	Anomaly of chromosome pair 3	Inferred relationship	Some
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.	Is a	False	Anomaly of chromosome pair 3	Inferred relationship	Some
Deletion of part of chromosome 3 (disorder)	Is a	True	Anomaly of chromosome pair 3	Inferred relationship	Some
Partial trisomy of chromosome 3	Is a	True	Anomaly of chromosome pair 3	Inferred relationship	Some
Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.	Is a	True	Anomaly of chromosome pair 3	Inferred relationship	Some
Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (including triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodactyly, brachydactyly), café-au-lait patches and hypospadias.	Is a	True	Anomaly of chromosome pair 3	Inferred relationship	Some

This concept is not in any reference sets