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

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

\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome (disorder)\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 (disorder)\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

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

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	Existential restriction modifier (core metadata concept)
Deletion of part of long arm of chromosome 2 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Deletion of part of long arm of chromosome 2 (disorder)	Finding site	Chromosome pair 2 (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Deletion of part of long arm of chromosome 2 (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Deletion of part of long arm of chromosome 2 (disorder)	Finding site	Chromosome pair 2 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Deletion of part of long arm of chromosome 2 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Deletion of part of long arm of chromosome 2 (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Deletion of part of long arm of chromosome 2 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Deletion of part of long arm of chromosome 2 (disorder)	Finding site	Long arm of chromosome (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Deletion of part of long arm of chromosome 2 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)
2q23.1 microdeletion syndrome (disorder)	Is a	True	Deletion of part of long arm of chromosome 2 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
2q24 microdeletion syndrome (disorder)	Is a	True	Deletion of part of long arm of chromosome 2 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare autosomal monosomy characterised by a variable phenotype with moderate to severe intellectual disability, behavioural 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	Existential restriction modifier (core metadata concept)
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.	Is a	True	Deletion of part of long arm of chromosome 2 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Chromosome 2q37 deletion syndrome	Is a	True	Deletion of part of long arm of chromosome 2 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Mowat-Wilson syndrome due to monosomy 2q22 (disorder)	Due to	True	Deletion of part of long arm of chromosome 2 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)
Medial deletion of long arm of chromosome 2	Is a	True	Deletion of part of long arm of chromosome 2 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Proximal deletion of long arm of chromosome 2 (disorder)	Is a	True	Deletion of part of long arm of chromosome 2 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets