778007004: 12p12.1 microdeletion syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Lamb Shaffer syndrome\12p12.1 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\Lamb Shaffer syndrome\12p12.1 microdeletion syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\12p12.1 microdeletion syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\12p12.1 microdeletion syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Lamb Shaffer syndrome\12p12.1 microdeletion syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Lamb Shaffer syndrome\12p12.1 microdeletion syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Lamb Shaffer syndrome\12p12.1 microdeletion syndrome

\Disease\Genetic disease\Lamb Shaffer syndrome\12p12.1 microdeletion syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 12\Deletion of part of short arm of chromosome 12\12p12.1 microdeletion syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Deletion of part of chromosome 12\Deletion of part of short arm of chromosome 12\12p12.1 microdeletion syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\12p12.1 microdeletion syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\12p12.1 microdeletion syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\12p12.1 microdeletion syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\12p12.1 microdeletion syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 12\Deletion of part of short arm of chromosome 12\12p12.1 microdeletion syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Deletion of part of chromosome 12\Deletion of part of short arm of chromosome 12\12p12.1 microdeletion syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Lamb Shaffer syndrome\12p12.1 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\12p12.1 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\12p12.1 microdeletion syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Lamb Shaffer syndrome\12p12.1 microdeletion syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3736393014 12p12.1 microdeletion syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

3736394015 Monosomy 12p12.1 en Synonym Active Only initial character case insensitive SNOMED CT core module

3736395019 12p12.1 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
12p12.1 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	2
12p12.1 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
12p12.1 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
12p12.1 microdeletion syndrome	Finding site	Chromosome pair 12	true	Inferred relationship	Existential restriction modifier	2
12p12.1 microdeletion syndrome	Is a	Deletion of part of chromosome 12	false	Inferred relationship	Existential restriction modifier
12p12.1 microdeletion syndrome	Finding site	Short arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
12p12.1 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	1
12p12.1 microdeletion syndrome	Is a	Deletion of part of short arm of chromosome 12	true	Inferred relationship	Existential restriction modifier
12p12.1 microdeletion syndrome	Is a	Multiple system malformation syndrome	false	Inferred relationship	Existential restriction modifier
12p12.1 microdeletion syndrome	Finding site	Chromosome pair 12	false	Inferred relationship	Existential restriction modifier	1
12p12.1 microdeletion syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	1
12p12.1 microdeletion syndrome	Finding site	Short arm of chromosome	false	Inferred relationship	Existential restriction modifier	2
12p12.1 microdeletion syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	2
12p12.1 microdeletion syndrome	Is a	Lamb Shaffer syndrome	true	Inferred relationship	Existential restriction modifier
12p12.1 microdeletion syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
12p12.1 microdeletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
12p12.1 microdeletion syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
12p12.1 microdeletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
12p12.1 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
12p12.1 microdeletion syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
12p12.1 microdeletion syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
12p12.1 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3

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
3736393014	12p12.1 microdeletion syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3736394015	Monosomy 12p12.1	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3736395019	12p12.1 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module