1229891004: 20q11.2 microdeletion syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\20q11.2 microdeletion syndrome

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion 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\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\20q11.2 microdeletion syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\20q11.2 microdeletion syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\20q11.2 microdeletion syndrome

\Disease\Genetic disease\20q11.2 microdeletion syndrome
\Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 20\Deletion of part of long arm of chromosome 20\20q11.2 microdeletion syndrome
\Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Deletion of part of chromosome 20\Deletion of part of long arm of chromosome 20\20q11.2 microdeletion syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome
\Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 20\Deletion of part of long arm of chromosome 20\20q11.2 microdeletion syndrome
\Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Deletion of part of chromosome 20\Deletion of part of long arm of chromosome 20\20q11.2 microdeletion syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\20q11.2 microdeletion syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome

Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5065647010 20q11.2 microdeletion syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

5065648017 20q11.2 microdeletion syndrome en Synonym Active Case insensitive SNOMED CT core

5065661017 A rare genetic syndromic intellectual disability with characteristics of psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition) and craniofacial dysmorphism. Associated prenatal growth retardation and gastrointestinal, heart and eye anomalies have been reported. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
20q11.2 microdeletion syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
20q11.2 microdeletion syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
20q11.2 microdeletion syndrome	Is a	Deletion of part of long arm of chromosome 20	true	Inferred relationship	Some
20q11.2 microdeletion syndrome	Is a	Genetic disease	true	Inferred relationship	Some
20q11.2 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
20q11.2 microdeletion syndrome	Finding site	Chromosome pair 20	true	Inferred relationship	Some	1
20q11.2 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Some	1
20q11.2 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
20q11.2 microdeletion syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
20q11.2 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Some	2
20q11.2 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
20q11.2 microdeletion syndrome	Finding site	Limb structure	true	Inferred relationship	Some	3
20q11.2 microdeletion syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
20q11.2 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
20q11.2 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
20q11.2 microdeletion syndrome	Finding site	Face structure	true	Inferred relationship	Some	4
20q11.2 microdeletion syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
20q11.2 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
20q11.2 microdeletion syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
20q11.2 microdeletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
20q11.2 microdeletion syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	6
20q11.2 microdeletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5065647010	20q11.2 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5065648017	20q11.2 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5065661017	A rare genetic syndromic intellectual disability with characteristics of psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition) and craniofacial dysmorphism. Associated prenatal growth retardation and gastrointestinal, heart and eye anomalies have been reported.	en	Definition	Active	Case sensitive	SNOMED CT core