74769007: Anomaly of chromosome pair 1 (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 1

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1

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

124173018 Anomaly of chromosome pair 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

815304016 Anomaly of chromosome pair 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

124173018 Anomaly of chromosome pair 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

124173018 Anomaly of chromosome pair 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

815304016 Anomaly of chromosome pair 1 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

815304016 Anomaly of chromosome pair 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

994641000172118 anomalie du chromosome 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

994641000172118 anomalie du chromosome 1 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 1	Is a	Anomaly of sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 1	Finding site	Chromosome pair 1	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 1	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 1	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 1	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 1	Is a	Anomaly of chromosome pair	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 1	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 1	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 1	Finding site	Chromosome pair 1	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 1	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 1	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 1	Finding site	Chromosome pair 1	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
1q partial monosomy (disorder)	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Existential restriction modifier (core metadata concept)
1p partial monosomy	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 1 syndrome	Is a	True	Anomaly of chromosome pair 1	Inferred relationship	Existential restriction modifier (core metadata concept)
1q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Existential restriction modifier (core metadata concept)
1q21.1 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Existential restriction modifier (core metadata concept)
1p36 deletion syndrome	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Existential restriction modifier (core metadata concept)
1q41q42 microdeletion syndrome	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal monosomy 1q syndrome (disorder)	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 1	Is a	True	Anomaly of chromosome pair 1	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 1 (disorder)	Is a	True	Anomaly of chromosome pair 1	Inferred relationship	Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome 1 (disorder)	Is a	True	Anomaly of chromosome pair 1	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 1 is a 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 1	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare autosomal trisomy, characterised by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism.	Is a	True	Anomaly of chromosome pair 1	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal trisomy 1p	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal trisomy 1q (disorder)	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontotemporal dementia due to TARDBP mutation	Due to	True	Anomaly of chromosome pair 1	Inferred relationship	Existential restriction modifier (core metadata concept)	3

This concept is not in any reference sets