770756008: 2p13.2 microdeletion syndrome (disorder)

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

\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\2p13.2 microdeletion syndrome

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\2p13.2 microdeletion syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\2p13.2 microdeletion syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\2p13.2 microdeletion syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\2p13.2 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 2 (disorder)\Deletion of part of short arm of chromosome 2 (disorder)\2p13.2 microdeletion syndrome
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Deletion of part of chromosome 2 (disorder)\Deletion of part of short arm of chromosome 2 (disorder)\2p13.2 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\2p13.2 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\2p13.2 microdeletion syndrome
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\2p13.2 microdeletion syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\2p13.2 microdeletion syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\2p13.2 microdeletion syndrome
\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 2 (disorder)\Deletion of part of short arm of chromosome 2 (disorder)\2p13.2 microdeletion syndrome
\Disease\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Deletion of part of chromosome 2 (disorder)\Deletion of part of short arm of chromosome 2 (disorder)\2p13.2 microdeletion syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\2p13.2 microdeletion syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\2p13.2 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\2p13.2 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\2p13.2 microdeletion syndrome

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

3702474014 2p13.2 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3702475010 2p13.2 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3702476011 A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3702477019 A rare partial autosomal monosomy characterised by global development delay, intellectual disability, behavioural abnormalities (hyperactivity, attention deficit and autistic behaviours), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4210301000052119 2p13.2-mikrodeletionssyndromet sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
2p13.2 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
2p13.2 microdeletion syndrome	Finding site	Chromosome pair 2	true	Inferred relationship	Some	2
2p13.2 microdeletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
2p13.2 microdeletion syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
2p13.2 microdeletion syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
2p13.2 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
2p13.2 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
2p13.2 microdeletion syndrome	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	1
2p13.2 microdeletion syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
2p13.2 microdeletion syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
2p13.2 microdeletion syndrome	Finding site	Chromosome pair 2	false	Inferred relationship	Some	1
2p13.2 microdeletion syndrome	Is a	Deletion of part of short arm of chromosome 2 (disorder)	true	Inferred relationship	Some
2p13.2 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
2p13.2 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
2p13.2 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
2p13.2 microdeletion syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
2p13.2 microdeletion syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
2p13.2 microdeletion syndrome	Finding site	Short arm of chromosome	true	Inferred relationship	Some	1
2p13.2 microdeletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3702474014	2p13.2 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702475010	2p13.2 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702476011	A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702477019	A rare partial autosomal monosomy characterised by global development delay, intellectual disability, behavioural abnormalities (hyperactivity, attention deficit and autistic behaviours), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4210301000052119	2p13.2-mikrodeletionssyndromet	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)