32107005: Anomaly of chromosome pair 17 (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 17

\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 17

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

53647017 Anomaly of chromosome pair 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

763352014 Anomaly of chromosome pair 17 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2996911000005117 anomali i kromosompar 17 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 17	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 17	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 17	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 17	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 17	Finding site	Chromosome pair 17	false	Inferred relationship	Some	1
Anomaly of chromosome pair 17	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 17	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Anomaly of chromosome pair 17	Associated morphology	kongenit anomali	false	Inferred relationship	Some
Anomaly of chromosome pair 17	Finding site	Chromosome pair 17	false	Inferred relationship	Some	1
Anomaly of chromosome pair 17	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 17	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 17	Finding site	Chromosome pair 17	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
17q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 17	Inferred relationship	Some
17p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 17	Inferred relationship	Some
Deletion of long arm of chromosome 17	Is a	False	Anomaly of chromosome pair 17	Inferred relationship	Some
A rare multisystem disorder characterised by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition.	Is a	True	Anomaly of chromosome pair 17	Inferred relationship	Some
Deletion of part of chromosome 17 (disorder)	Is a	True	Anomaly of chromosome pair 17	Inferred relationship	Some
Partial trisomy of chromosome 17 (disorder)	Is a	True	Anomaly of chromosome pair 17	Inferred relationship	Some
Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.	Is a	True	Anomaly of chromosome pair 17	Inferred relationship	Some
A rare chromosomal anomaly syndrome resulting from partial deletion of chromosome 17. The disease has highly variable manifestations ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), cafe-au-lait spots, retinal flecks and minor facial dysmorphism depending on the presence or absence of the Miller-Dieker critical region.	Is a	True	Anomaly of chromosome pair 17	Inferred relationship	Some

This concept is not in any reference sets