1003900006: Proximal deletion of long arm of chromosome 4 (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 4 (disorder)\4q partial monosomy syndrome\Proximal deletion of long arm of chromosome 4 (disorder)

\Anomaly of chromosome pair 4\Deletion of part of chromosome 4 (disorder)\4q partial monosomy syndrome\Proximal deletion of long arm of chromosome 4 (disorder)

\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 4 (disorder)\4q partial monosomy syndrome\Proximal deletion of long arm of chromosome 4 (disorder)

\Anomaly of chromosome pair 4\Deletion of part of chromosome 4 (disorder)\4q partial monosomy syndrome\Proximal deletion of long arm of chromosome 4 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4166923017 Proximal deletion of long arm of chromosome 4 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4166924011 Proximal deletion of long arm of chromosome 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7695001000241115 délétion proximale de 4q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7695011000241118 délétion proximale du bras long du chromosome 4 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
Proximal deletion of long arm of chromosome 4 (disorder)	Is a	4q partial monosomy syndrome	true	Inferred relationship	Some
Proximal deletion of long arm of chromosome 4 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 4 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 4 (disorder)	Finding site	Chromosome pair 4 (cell structure)	true	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 4 (disorder)	Finding site	Chromosome pair 4 (cell structure)	true	Inferred relationship	Some	3
Proximal deletion of long arm of chromosome 4 (disorder)	Associated morphology	Deletion of long arm	true	Inferred relationship	Some	3
Proximal deletion of long arm of chromosome 4 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands.	Is a	True	Proximal deletion of long arm of chromosome 4 (disorder)	Inferred relationship	Some

This concept is not in any reference sets