719651000: 2p15p16.1 microdeletion syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\2p15p16.1 microdeletion syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\2p15p16.1 microdeletion syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\2p15p16.1 microdeletion syndrome

\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 2\Deletion of part of short arm of chromosome 2\2p15p16.1 microdeletion syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Deletion of part of chromosome 2\Deletion of part of short arm of chromosome 2\2p15p16.1 microdeletion syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\2p15p16.1 microdeletion syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\2p15p16.1 microdeletion syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\2p15p16.1 microdeletion syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\2p15p16.1 microdeletion syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 2\Deletion of part of short arm of chromosome 2\2p15p16.1 microdeletion syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Deletion of part of chromosome 2\Deletion of part of short arm of chromosome 2\2p15p16.1 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\2p15p16.1 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\2p15p16.1 microdeletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3317247019 2p15p16.1 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3317248012 2p15p16.1 microdeletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3317249016 Monosomy 2p15p16.1 en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
2p15p16.1 microdeletion syndrome	Is a	Anomaly of chromosome pair 2	false	Inferred relationship	Existential restriction modifier
2p15p16.1 microdeletion syndrome	Is a	Deletion of part of autosome	false	Inferred relationship	Existential restriction modifier
2p15p16.1 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
2p15p16.1 microdeletion syndrome	Finding site	Chromosome pair 2	false	Inferred relationship	Existential restriction modifier	2
2p15p16.1 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
2p15p16.1 microdeletion syndrome	Finding site	Chromosome pair 2	false	Inferred relationship	Existential restriction modifier	3
2p15p16.1 microdeletion syndrome	Associated morphology	Deletion of short arm	false	Inferred relationship	Existential restriction modifier	2
2p15p16.1 microdeletion syndrome	Associated morphology	Partial monosomy	false	Inferred relationship	Existential restriction modifier	3
2p15p16.1 microdeletion syndrome	Is a	Deletion of part of short arm of chromosome 2	true	Inferred relationship	Existential restriction modifier
2p15p16.1 microdeletion syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
2p15p16.1 microdeletion syndrome	Finding site	Short arm of chromosome	true	Inferred relationship	Existential restriction modifier	2
2p15p16.1 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	2
2p15p16.1 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
2p15p16.1 microdeletion syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
2p15p16.1 microdeletion syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
2p15p16.1 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
2p15p16.1 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
2p15p16.1 microdeletion syndrome	Finding site	Chromosome pair 2	true	Inferred relationship	Existential restriction modifier	1
2p15p16.1 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	1
2p15p16.1 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3317247019	2p15p16.1 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3317248012	2p15p16.1 microdeletion syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3317249016	Monosomy 2p15p16.1	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module