44710007: Anomaly of chromosome pair 6 (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 6

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 6

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

74584016 Anomaly of chromosome pair 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

781869015 Anomaly of chromosome pair 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

893241000172111 anomalie du chromosome 6 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 6	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 6	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 6	Finding site	Chromosome pair 6	false	Inferred relationship	Some	1
Anomaly of chromosome pair 6	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 6	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 6	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 6	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Anomaly of chromosome pair 6	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Anomaly of chromosome pair 6	Finding site	Chromosome pair 6	false	Inferred relationship	Some	1
Anomaly of chromosome pair 6	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 6	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 6	Finding site	Chromosome pair 6	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
6q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Some
6p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Some
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Some
6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Some
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Some
A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association.	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Some
Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Some
Deletion of part of chromosome 6 (disorder)	Is a	True	Anomaly of chromosome pair 6	Inferred relationship	Some
Partial trisomy of chromosome 6	Is a	True	Anomaly of chromosome pair 6	Inferred relationship	Some
Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (including microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.	Is a	True	Anomaly of chromosome pair 6	Inferred relationship	Some
Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.	Is a	True	Anomaly of chromosome pair 6	Inferred relationship	Some
Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.	Is a	True	Anomaly of chromosome pair 6	Inferred relationship	Some

This concept is not in any reference sets