719047001: 14q11.2 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\14q11.2 microdeletion syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\14q11.2 microdeletion syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\14q11.2 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 14\Partial deletion of long arm of chromosome 14\14q11.2 microdeletion syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Deletion of part of chromosome 14\Partial deletion of long arm of chromosome 14\14q11.2 microdeletion syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\14q11.2 microdeletion syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\14q11.2 microdeletion syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\14q11.2 microdeletion syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\14q11.2 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 14\Partial deletion of long arm of chromosome 14\14q11.2 microdeletion syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Deletion of part of chromosome 14\Partial deletion of long arm of chromosome 14\14q11.2 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\14q11.2 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\14q11.2 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

3314802016 14q11.2 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3314803014 14q11.2 microdeletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3314804015 Monosomy 14q11.2 en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
14q11.2 microdeletion syndrome	Is a	Anomaly of chromosome pair 14	false	Inferred relationship	Existential restriction modifier
14q11.2 microdeletion syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
14q11.2 microdeletion syndrome	Is a	Deletion of part of autosome	false	Inferred relationship	Existential restriction modifier
14q11.2 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
14q11.2 microdeletion syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
14q11.2 microdeletion syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier	4
14q11.2 microdeletion syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
14q11.2 microdeletion syndrome	Finding site	Chromosome pair 14	false	Inferred relationship	Existential restriction modifier	4
14q11.2 microdeletion syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
14q11.2 microdeletion syndrome	Finding site	Chromosome pair 14	false	Inferred relationship	Existential restriction modifier	3
14q11.2 microdeletion syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
14q11.2 microdeletion syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	5
14q11.2 microdeletion syndrome	Associated morphology	Partial monosomy	false	Inferred relationship	Existential restriction modifier	3
14q11.2 microdeletion syndrome	Is a	Deletion of part of chromosome 14	false	Inferred relationship	Existential restriction modifier
14q11.2 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
14q11.2 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
14q11.2 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
14q11.2 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
14q11.2 microdeletion syndrome	Finding site	Chromosome pair 14	true	Inferred relationship	Existential restriction modifier	2
14q11.2 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
14q11.2 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	2
14q11.2 microdeletion syndrome	Finding site	Chromosome pair 14	false	Inferred relationship	Existential restriction modifier	1
14q11.2 microdeletion syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
14q11.2 microdeletion syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier	1
14q11.2 microdeletion syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
14q11.2 microdeletion syndrome	Is a	Partial deletion of long arm of chromosome 14	true	Inferred relationship	Existential restriction modifier
14q11.2 microdeletion syndrome	Associated morphology	Partial monosomy	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
3314802016	14q11.2 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3314803014	14q11.2 microdeletion syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3314804015	Monosomy 14q11.2	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module