773494008: 14q24.1q24.3 microdeletion syndrome (disorder)

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\A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
\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\A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
\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\A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 14 (disorder)\Partial deletion of long arm of chromosome 14 (disorder)\A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\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)\A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
\Disease\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 14 (disorder)\Partial deletion of long arm of chromosome 14 (disorder)\A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
\Disease\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\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)\A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
\Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.

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

Descriptions:

Id Description Lang Type Status Case? Module

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Occurrence	Congenital	true	Inferred relationship	Some	1
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	3
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Occurrence	Congenital	true	Inferred relationship	Some	3
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Finding site	Face structure	true	Inferred relationship	Some	2
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Finding site	Chromosome pair 14	true	Inferred relationship	Some	3
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Is a	Intellectual disability	true	Inferred relationship	Some
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Is a	Deletion of part of chromosome 14 (disorder)	false	Inferred relationship	Some
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Occurrence	Congenital	true	Inferred relationship	Some	2
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Finding site	Chromosome pair 14	false	Inferred relationship	Some	1
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Is a	Partial deletion of long arm of chromosome 14 (disorder)	true	Inferred relationship	Some
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	3
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Interprets	Intellectual ability	true	Inferred relationship	Some	4
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Has interpretation	Impaired	true	Inferred relationship	Some	4
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.	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
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
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