16569009: Anomaly of chromosome pair 15 (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 15

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15

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

28033019 Anomaly of chromosome pair 15 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

743616010 Anomaly of chromosome pair 15 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

957771000172115 anomalie du chromosome 15 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 15	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 15	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 15	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 15	Finding site	Chromosome pair 15	false	Inferred relationship	Some	1
Anomaly of chromosome pair 15	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 15	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 15	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Anomaly of chromosome pair 15	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Anomaly of chromosome pair 15	Finding site	Chromosome pair 15	false	Inferred relationship	Some	1
Anomaly of chromosome pair 15	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 15	Finding site	Chromosome pair 15	true	Inferred relationship	Some	1
Anomaly of chromosome pair 15	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
15q partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 15	Inferred relationship	Some
15q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 15	Inferred relationship	Some
Angelman syndrome	Is a	False	Anomaly of chromosome pair 15	Inferred relationship	Some
Prader-Willi syndrome	Is a	False	Anomaly of chromosome pair 15	Inferred relationship	Some
15q13.3 microdeletion	Is a	False	Anomaly of chromosome pair 15	Inferred relationship	Some
15q24 microdeletion	Is a	False	Anomaly of chromosome pair 15	Inferred relationship	Some
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	Is a	False	Anomaly of chromosome pair 15	Inferred relationship	Some
A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures.	Is a	True	Anomaly of chromosome pair 15	Inferred relationship	Some
Deletion of part of chromosome 15 (disorder)	Is a	True	Anomaly of chromosome pair 15	Inferred relationship	Some
Partial trisomy of chromosome 15 (disorder)	Is a	True	Anomaly of chromosome pair 15	Inferred relationship	Some
A rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).	Is a	True	Anomaly of chromosome pair 15	Inferred relationship	Some
Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (including ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (including hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.	Is a	True	Anomaly of chromosome pair 15	Inferred relationship	Some
Maternal uniparental disomy of chromosome 15	Is a	True	Anomaly of chromosome pair 15	Inferred relationship	Some
Paternal uniparental disomy of chromosome 15	Is a	True	Anomaly of chromosome pair 15	Inferred relationship	Some
Tetrasomy 15q (disorder)	Is a	True	Anomaly of chromosome pair 15	Inferred relationship	Some

This concept is not in any reference sets