74769007: Anomaly of chromosome pair 1 (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 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

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
1q partial monosomy	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Some
1p partial monosomy	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Some
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.	Is a	True	Anomaly of chromosome pair 1	Inferred relationship	Some
1q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Some
1q21.1 microdeletion	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Some
Chromosome 1p36 deletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Some
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Some
A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastroesophageal and urogenital anomalies.	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Some
Partial trisomy of chromosome 1	Is a	True	Anomaly of chromosome pair 1	Inferred relationship	Some
Deletion of part of chromosome 1 (disorder)	Is a	True	Anomaly of chromosome pair 1	Inferred relationship	Some
Paternal uniparental disomy of chromosome 1 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 1	Inferred relationship	Some
Maternal uniparental disomy of chromosome 1 (disorder)	Is a	True	Anomaly of chromosome pair 1	Inferred relationship	Some
A rare autosomal trisomy, characterized 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	Some
Distal trisomy 1p	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Some
Distal trisomy 1q (disorder)	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Some
Frontotemporal dementia due to TARDBP mutation	Due to	True	Anomaly of chromosome pair 1	Inferred relationship	Some	3

This concept is not in any reference sets