60891003: Anomaly of chromosome pair 11 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 11

\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 11

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

101172016 Anomaly of chromosome pair 11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

799893013 Anomaly of chromosome pair 11 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1792931000005117 Anomali i kromosompar 11 da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anomaly of chromosome pair 11	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 11	Finding site	Chromosome pair 11	false	Inferred relationship	Some	1
Anomaly of chromosome pair 11	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 11	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 11	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 11	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 11	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Anomaly of chromosome pair 11	Associated morphology	kongenit anomali	false	Inferred relationship	Some
Anomaly of chromosome pair 11	Finding site	Chromosome pair 11	false	Inferred relationship	Some	1
Anomaly of chromosome pair 11	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 11	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 11	Finding site	Chromosome pair 11	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
An autosomal anomaly with characteristics of variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.	Is a	True	Anomaly of chromosome pair 11	Inferred relationship	Some
11p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 11	Inferred relationship	Some
11p partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 11	Inferred relationship	Some
11q partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 11	Inferred relationship	Some
11q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 11	Inferred relationship	Some
Deletion of part of chromosome 11 (disorder)	Is a	True	Anomaly of chromosome pair 11	Inferred relationship	Some
Partial trisomy of chromosome 11 (disorder)	Is a	True	Anomaly of chromosome pair 11	Inferred relationship	Some
Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophrys, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.	Is a	True	Anomaly of chromosome pair 11	Inferred relationship	Some
Maternal uniparental disomy of chromosome 11	Is a	True	Anomaly of chromosome pair 11	Inferred relationship	Some
Paternal uniparental disomy of chromosome 11	Is a	True	Anomaly of chromosome pair 11	Inferred relationship	Some

This concept is not in any reference sets