773494008: 14q24.1q24.3-microdeletiesyndroom (aandoening)

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

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\14q24.1q24.3 microdeletion syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\14q24.1q24.3 microdeletion syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\14q24.1q24.3 microdeletion syndrome

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\14q24.1q24.3 microdeletion syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\14q24.1q24.3 microdeletion syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\14q24.1q24.3 microdeletion syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\14q24.1q24.3 microdeletion syndrome

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\14q24.1q24.3 microdeletion syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\14q24.1q24.3 microdeletion syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 14 (disorder)\Partial deletion of long arm of chromosome 14 (disorder)\14q24.1q24.3 microdeletion syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Deletion of part of chromosome 14 (disorder)\Partial deletion of long arm of chromosome 14 (disorder)\14q24.1q24.3 microdeletion syndrome
\Disease\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 14 (disorder)\Partial deletion of long arm of chromosome 14 (disorder)\14q24.1q24.3 microdeletion syndrome
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Deletion of part of chromosome 14 (disorder)\Partial deletion of long arm of chromosome 14 (disorder)\14q24.1q24.3 microdeletion syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\14q24.1q24.3 microdeletion syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\14q24.1q24.3 microdeletion syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\14q24.1q24.3 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\14q24.1q24.3 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\14q24.1q24.3 microdeletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
14q24.1q24.3 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
14q24.1q24.3 microdeletion syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	3
14q24.1q24.3 microdeletion syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
14q24.1q24.3 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
14q24.1q24.3 microdeletion syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
14q24.1q24.3 microdeletion syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
14q24.1q24.3 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
14q24.1q24.3 microdeletion syndrome	Finding site	Chromosome pair 14	true	Inferred relationship	Some	3
14q24.1q24.3 microdeletion syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
14q24.1q24.3 microdeletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
14q24.1q24.3 microdeletion syndrome	Is a	Deletion of part of chromosome 14 (disorder)	false	Inferred relationship	Some
14q24.1q24.3 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
14q24.1q24.3 microdeletion syndrome	Finding site	Chromosome pair 14	false	Inferred relationship	Some	1
14q24.1q24.3 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
14q24.1q24.3 microdeletion syndrome	Is a	Partial deletion of long arm of chromosome 14 (disorder)	true	Inferred relationship	Some
14q24.1q24.3 microdeletion syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
14q24.1q24.3 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
14q24.1q24.3 microdeletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	3
14q24.1q24.3 microdeletion syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
14q24.1q24.3 microdeletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
14q24.1q24.3 microdeletion syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
14q24.1q24.3 microdeletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3723716018	14q24.1q24.3 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723717010	14q24.1q24.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723718017	Monosomy 14q24.1q24.3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6565391000146117	14q24.1q24.3-microdeletiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6565401000146119	14q24.1q24.3-microdeletiesyndroom (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6565411000146117	14q24.1-q24.3-microdeletiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6565421000146110	monosomie 14q24.1q24.3	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6565431000146112	monosomie 14q24.1-q24.3	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3723719013	A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core