773547003: 13q12.3 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\13q12.3 microdeletion syndrome (disorder)
\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\13q12.3 microdeletion syndrome (disorder)
\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\13q12.3 microdeletion syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\13q12.3 microdeletion syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\13q12.3 microdeletion syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\13q12.3 microdeletion syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\13q12.3 microdeletion syndrome (disorder)

\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\13q12.3 microdeletion syndrome (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\13q12.3 microdeletion syndrome (disorder)
\Disease\Fetal and/or neonatal disorder\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 13 (disorder)\Deletion of long arm of chromosome 13\13q12.3 microdeletion syndrome (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Deletion of part of chromosome 13 (disorder)\Deletion of long arm of chromosome 13\13q12.3 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 13 (disorder)\Deletion of long arm of chromosome 13\13q12.3 microdeletion syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Deletion of part of chromosome 13 (disorder)\Deletion of long arm of chromosome 13\13q12.3 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\13q12.3 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\13q12.3 microdeletion syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\13q12.3 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\13q12.3 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\13q12.3 microdeletion syndrome (disorder)

Status: current. Date: 30-Jan 2019

Descriptions:

Id Description Lang Type Status Case? Module

3724039013 13q12.3 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3724040010 13q12.3 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3724041014 Monosomy 13q12.3 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3724042019 A rare chromosomal anomaly with characteristics of moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip) and reduced sensitivity to pain. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5405284011 13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405285012 13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterised by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
13q12.3 microdeletion syndrome (disorder)	Occurrence	Congenital	true	SNOMED RT Concept	SNOMED RT Concept	2
13q12.3 microdeletion syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	SNOMED RT Concept	SNOMED RT Concept
13q12.3 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	SNOMED RT Concept	SNOMED RT Concept	1
13q12.3 microdeletion syndrome (disorder)	Associated morphology	Deletion of long arm	false	SNOMED RT Concept	SNOMED RT Concept	2
13q12.3 microdeletion syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	SNOMED RT Concept	SNOMED RT Concept	1
13q12.3 microdeletion syndrome (disorder)	Occurrence	Congenital	true	SNOMED RT Concept	SNOMED RT Concept	1
13q12.3 microdeletion syndrome (disorder)	Finding site	Chromosome pair 13	false	SNOMED RT Concept	SNOMED RT Concept	3
13q12.3 microdeletion syndrome (disorder)	Is a	13q partial monosomy syndrome (disorder)	false	SNOMED RT Concept	SNOMED RT Concept
13q12.3 microdeletion syndrome (disorder)	Is a	Intellectual disability	true	SNOMED RT Concept	SNOMED RT Concept
13q12.3 microdeletion syndrome (disorder)	Occurrence	Congenital	true	SNOMED RT Concept	SNOMED RT Concept	3
13q12.3 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	SNOMED RT Concept	SNOMED RT Concept	3
13q12.3 microdeletion syndrome (disorder)	Finding site	Chromosome pair 13	true	SNOMED RT Concept	SNOMED RT Concept	2
13q12.3 microdeletion syndrome (disorder)	Finding site	Face structure	true	SNOMED RT Concept	SNOMED RT Concept	1
13q12.3 microdeletion syndrome (disorder)	Is a	Deletion of long arm of chromosome 13	true	SNOMED RT Concept	SNOMED RT Concept
13q12.3 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	SNOMED RT Concept	SNOMED RT Concept	2
13q12.3 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	SNOMED RT Concept	SNOMED RT Concept	2
13q12.3 microdeletion syndrome (disorder)	Finding site	Long arm of chromosome	true	SNOMED RT Concept	SNOMED RT Concept	3
13q12.3 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	SNOMED RT Concept	SNOMED RT Concept	3
13q12.3 microdeletion syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	SNOMED RT Concept	SNOMED RT Concept	4
13q12.3 microdeletion syndrome (disorder)	Has interpretation	Impaired	true	SNOMED RT Concept	SNOMED RT Concept	4
13q12.3 microdeletion syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	SNOMED RT Concept	SNOMED RT Concept	5
13q12.3 microdeletion syndrome (disorder)	Has interpretation	Impaired	true	SNOMED RT Concept	SNOMED RT Concept	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

SNOMED RT Concept

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3724039013	13q12.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3724040010	13q12.3 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3724041014	Monosomy 13q12.3	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3724042019	A rare chromosomal anomaly with characteristics of moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip) and reduced sensitivity to pain.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405284011	13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405285012	13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterised by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core