879939002: 14q32 deletion syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\14q32 deletion syndrome

\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\14q32 deletion syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\14q32 deletion syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\14q32 deletion syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\14q32 deletion syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\14q32 deletion syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\14q32 deletion 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\14q32 deletion 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\14q32 deletion syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\14q32 deletion syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\14q32 deletion syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\14q32 deletion syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\14q32 deletion 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\14q32 deletion 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\14q32 deletion syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\14q32 deletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\14q32 deletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\14q32 deletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3994099015 14q32 deletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3994100011 14q32 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
14q32 deletion syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
14q32 deletion syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
14q32 deletion syndrome	Is a	Deletion of part of chromosome 14	false	Inferred relationship	Existential restriction modifier
14q32 deletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	1
14q32 deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
14q32 deletion syndrome	Finding site	Chromosome pair 14	true	Inferred relationship	Existential restriction modifier	1
14q32 deletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
14q32 deletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
14q32 deletion syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier	2
14q32 deletion syndrome	Finding site	Chromosome pair 14	false	Inferred relationship	Existential restriction modifier	2
14q32 deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
14q32 deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
14q32 deletion syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
14q32 deletion syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
14q32 deletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
14q32 deletion syndrome	Is a	Partial deletion of long arm of chromosome 14	true	Inferred relationship	Existential restriction modifier
14q32 deletion syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	2
14q32 deletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	2
14q32 deletion syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
14q32 deletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
14q32 deletion syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
14q32 deletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5

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
3994099015	14q32 deletion syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3994100011	14q32 deletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module