84711007: Anomaly of chromosome pair 4 (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 4

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 4

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

140439019 Anomaly of chromosome pair 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

826613015 Anomaly of chromosome pair 4 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

871351000172110 anomalie du chromosome 4 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 4	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 4	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 4	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 4	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 4	Finding site	Chromosome pair 4 (cell structure)	false	Inferred relationship	Some	1
Anomaly of chromosome pair 4	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 4	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Anomaly of chromosome pair 4	Finding site	Chromosome pair 4 (cell structure)	false	Inferred relationship	Some	1
Anomaly of chromosome pair 4	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Anomaly of chromosome pair 4	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 4	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 4	Finding site	Chromosome pair 4 (cell structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
4p partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 4	Inferred relationship	Some
4q partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 4	Inferred relationship	Some
4p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 4	Inferred relationship	Some
Autosomal anomaly characterised by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.	Is a	True	Anomaly of chromosome pair 4	Inferred relationship	Some
4q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 4	Inferred relationship	Some
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.	Is a	True	Anomaly of chromosome pair 4	Inferred relationship	Some
Deletion of part of chromosome 4 (disorder)	Is a	True	Anomaly of chromosome pair 4	Inferred relationship	Some
Partial trisomy of chromosome 4 (disorder)	Is a	True	Anomaly of chromosome pair 4	Inferred relationship	Some
Mosaic trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorly rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.	Is a	True	Anomaly of chromosome pair 4	Inferred relationship	Some
Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	Is a	True	Anomaly of chromosome pair 4	Inferred relationship	Some
Paternal uniparental disomy of chromosome 4	Is a	True	Anomaly of chromosome pair 4	Inferred relationship	Some

This concept is not in any reference sets