4242009: 18q partial monosomy syndrome (disorder)

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

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 18 (disorder)\Deletion of long arm of chromosome 18\18q partial monosomy syndrome

\Anomaly of chromosome pair 18\Deletion of part of chromosome 18 (disorder)\Deletion of long arm of chromosome 18\18q partial monosomy syndrome

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

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 18 (disorder)\Deletion of long arm of chromosome 18\18q partial monosomy syndrome

\Anomaly of chromosome pair 18\Deletion of part of chromosome 18 (disorder)\Deletion of long arm of chromosome 18\18q partial monosomy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

8152014 18q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

8153016 18q minus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

8154010 Long arm 18 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

779318016 18q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4402271000241115 monosomie partielle 18q 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
18q partial monosomy syndrome	Is a	Anomaly of chromosome pair 18	false	Inferred relationship	Some
18q partial monosomy syndrome	Associated morphology	Monosomy	false	Inferred relationship	Some
18q partial monosomy syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
18q partial monosomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
18q partial monosomy syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Some
18q partial monosomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
18q partial monosomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
18q partial monosomy syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
18q partial monosomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
18q partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
18q partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
18q partial monosomy syndrome	Finding site	Chromosome pair 18	true	Inferred relationship	Some	1
18q partial monosomy syndrome	Is a	Deletion of part of autosome	false	Inferred relationship	Some
18q partial monosomy syndrome	Associated morphology	Deletion of long arm	true	Inferred relationship	Some	1
18q partial monosomy syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
18q partial monosomy syndrome	Finding site	Chromosome pair 18	true	Inferred relationship	Some	2
18q partial monosomy syndrome	Is a	Deletion of part of chromosome 18 (disorder)	false	Inferred relationship	Some
18q partial monosomy syndrome	Is a	Deletion of long arm of chromosome 18	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A chromosomal condition occurring when a piece of the long (q) arm of chromosome 18 is missing near the centre of the chromosome. The disease has a wide range of characteristics including developmental delay, intellectual disability, delayed expressive language skills, recurrent seizures and hypotonia. Macrocephaly may also be associated along with characteristic facial features including prominent forehead, ptosis, downslanting palpebral fissures, puffy periorbital tissue, and full cheeks. Most cases of proximal 18q deletion syndrome are the result of a new (de novo) deletion and are not inherited from a parent.	Is a	True	18q partial monosomy syndrome	Inferred relationship	Some
A deletion of the long (q) arm of chromosome 18 near one end of the chromosome. Manifestations of this disorder are varied and can commonly include short stature, hypotonia, hearing loss, clubfoot or rocker-bottom feet, eye movement disorders and other vision problems, cleft palate, hypothyroidism, congenital heart defects, kidney problems, genital and skin abnormalities. Most cases are the result of a de novo deletion and are not inherited.	Is a	True	18q partial monosomy syndrome	Inferred relationship	Some
Proximal deletion of long arm of chromosome 18	Is a	True	18q partial monosomy syndrome	Inferred relationship	Some

This concept is not in any reference sets