726368009: Deletion of part of short arm of chromosome 2 (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 2 (disorder)\Deletion of part of short arm of chromosome 2 (disorder)

\Anomaly of chromosome pair 2\Deletion of part of chromosome 2 (disorder)\Deletion of part of short arm of chromosome 2 (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 2 (disorder)\Deletion of part of short arm of chromosome 2 (disorder)

\Anomaly of chromosome pair 2\Deletion of part of chromosome 2 (disorder)\Deletion of part of short arm of chromosome 2 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3464866019 Deletion of part of short arm of chromosome 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3464867011 Deletion of part of short arm of chromosome 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5866031000241114 délétion d'une partie du bras court du chromosome 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5866041000241116 délétion partielle du bras court du chromosome 2 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
Deletion of part of short arm of chromosome 2 (disorder)	Is a	Deletion of part of chromosome 2 (disorder)	true	Inferred relationship	Some
Deletion of part of short arm of chromosome 2 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 2 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 2 (disorder)	Finding site	Chromosome pair 2	true	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 2 (disorder)	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	3
Deletion of part of short arm of chromosome 2 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Deletion of part of short arm of chromosome 2 (disorder)	Finding site	Chromosome pair 2	false	Inferred relationship	Some	3
Deletion of part of short arm of chromosome 2 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Deletion of part of short arm of chromosome 2 (disorder)	Finding site	Short arm of chromosome	true	Inferred relationship	Some	1
Deletion of part of short arm of chromosome 2 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Is a	True	Deletion of part of short arm of chromosome 2 (disorder)	Inferred relationship	Some
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.	Is a	True	Deletion of part of short arm of chromosome 2 (disorder)	Inferred relationship	Some
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.	Is a	True	Deletion of part of short arm of chromosome 2 (disorder)	Inferred relationship	Some
A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.	Is a	True	Deletion of part of short arm of chromosome 2 (disorder)	Inferred relationship	Some

This concept is not in any reference sets