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60891003: Anomaly of chromosome pair 11 (disorder)

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
885111000172118 anomalie du chromosome 11 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

21 descendants. Search Descendants:

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 (cell structure) 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 anomalie congénitale false Inferred relationship Some 1
Anomaly of chromosome pair 11 Associated morphology anomalie congénitale false Inferred relationship Some
Anomaly of chromosome pair 11 Finding site Chromosome pair 11 (cell structure) 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 (cell structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare autosomal anomaly characterized by 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

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