726367004: Deletion of part of long 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 long arm of chromosome 2 (disorder)

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

\Anomaly of chromosome pair 2\Deletion of part of chromosome 2 (disorder)\Deletion of part of long 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

3464864016 Deletion of part of long arm of chromosome 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3464865015 Deletion of part of long arm of chromosome 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5885741000241113 délétion partielle du bras long du chromosome 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5885751000241111 délétion d'une partie du bras long 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 long arm of chromosome 2 (disorder)	Is a	Deletion of part of chromosome 2 (disorder)	true	Inferred relationship	Some
Deletion of part of long arm of chromosome 2 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 2 (disorder)	Finding site	Chromosome pair 2	true	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 2 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Deletion of part of long arm of chromosome 2 (disorder)	Finding site	Chromosome pair 2	false	Inferred relationship	Some	3
Deletion of part of long arm of chromosome 2 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 2 (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	3
Deletion of part of long arm of chromosome 2 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Deletion of part of long arm of chromosome 2 (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
Deletion of part of long arm of chromosome 2 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.	Is a	True	Deletion of part of long arm of chromosome 2 (disorder)	Inferred relationship	Some
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.	Is a	True	Deletion of part of long arm of chromosome 2 (disorder)	Inferred relationship	Some
2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.	Is a	True	Deletion of part of long arm of chromosome 2 (disorder)	Inferred relationship	Some
A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features.	Is a	True	Deletion of part of long arm of chromosome 2 (disorder)	Inferred relationship	Some
2q33.1 microdeletion syndrome (disorder)	Is a	True	Deletion of part of long arm of chromosome 2 (disorder)	Inferred relationship	Some
Chromosome 2q37 deletion syndrome	Is a	True	Deletion of part of long arm of chromosome 2 (disorder)	Inferred relationship	Some
Mowat-Wilson syndrome due to monosomy 2q22 (disorder)	Due to	True	Deletion of part of long arm of chromosome 2 (disorder)	Inferred relationship	Some	1
Distal deletion of long arm of chromosome 2 (disorder)	Is a	True	Deletion of part of long arm of chromosome 2 (disorder)	Inferred relationship	Some
Medial deletion of long arm of chromosome 2	Is a	True	Deletion of part of long arm of chromosome 2 (disorder)	Inferred relationship	Some
Proximal deletion of long arm of chromosome 2	Is a	True	Deletion of part of long arm of chromosome 2 (disorder)	Inferred relationship	Some

This concept is not in any reference sets