770719004: 3q27.3 microdeletion syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\3q27.3 microdeletion syndrome (disorder)

\Finding of head and neck region\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\3q27.3 microdeletion syndrome (disorder)

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\3q27.3 microdeletion syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\3q27.3 microdeletion syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\3q27.3 microdeletion syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\3q27.3 microdeletion syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\3q27.3 microdeletion syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\3q27.3 microdeletion syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\3q27.3 microdeletion syndrome (disorder)
\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 3 (disorder)\Deletion of part of long arm of chromosome 3 (disorder)\3q27.3 microdeletion syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 3\Deletion of part of chromosome 3 (disorder)\Deletion of part of long arm of chromosome 3 (disorder)\3q27.3 microdeletion syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\3q27.3 microdeletion syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\3q27.3 microdeletion syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\3q27.3 microdeletion syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\3q27.3 microdeletion syndrome (disorder)
\Disease\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 3 (disorder)\Deletion of part of long arm of chromosome 3 (disorder)\3q27.3 microdeletion syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 3\Deletion of part of chromosome 3 (disorder)\Deletion of part of long arm of chromosome 3 (disorder)\3q27.3 microdeletion syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\3q27.3 microdeletion syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\3q27.3 microdeletion syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\3q27.3 microdeletion syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\3q27.3 microdeletion syndrome (disorder)

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

3702235017 3q27.3 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3702236016 3q27.3 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3702237013 A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3. The syndrome has characteristics of mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

943111000172118 syndrome de microdélétion 3q27.3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

971761000172116 del(3)(q27.3) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

888981000172115 3q27.3 microdeletiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

959061000172115 del(3)(q27.3) nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
3q27.3 microdeletion syndrome (disorder)	Is a	Deletion of part of long arm of chromosome 3 (disorder)	true	Inferred relationship	Some
3q27.3 microdeletion syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
3q27.3 microdeletion syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
3q27.3 microdeletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
3q27.3 microdeletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
3q27.3 microdeletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
3q27.3 microdeletion syndrome (disorder)	Finding site	Chromosome pair 3	false	Inferred relationship	Some	3
3q27.3 microdeletion syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
3q27.3 microdeletion syndrome (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	3
3q27.3 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
3q27.3 microdeletion syndrome (disorder)	Finding site	Chromosome pair 3	true	Inferred relationship	Some	1
3q27.3 microdeletion syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
3q27.3 microdeletion syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
3q27.3 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
3q27.3 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
3q27.3 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
3q27.3 microdeletion syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
3q27.3 microdeletion syndrome (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	3
3q27.3 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	3
3q27.3 microdeletion syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
3q27.3 microdeletion syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
3q27.3 microdeletion syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
3q27.3 microdeletion syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	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
3702235017	3q27.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702236016	3q27.3 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702237013	A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3. The syndrome has characteristics of mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
943111000172118	syndrome de microdélétion 3q27.3	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
971761000172116	del(3)(q27.3)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
888981000172115	3q27.3 microdeletiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
959061000172115	del(3)(q27.3)	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)