1251450006: 16p12.1p12.3 triplication syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of finger\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper extremity\Disorder of hand\Disorder of finger\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity\Disorder of hand\Disorder of finger\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of finger\Disorder of finger\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Disorder of finger\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\16p12.1p12.3 triplication 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\16p12.1p12.3 triplication 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\16p12.1p12.3 triplication 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\16p12.1p12.3 triplication syndrome

\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 16\16p12.1p12.3 triplication syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of finger\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Disease\Disorder of extremity\Disorder of upper extremity\Disorder of hand\Disorder of finger\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Disease\Disorder of extremity\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Disease\Disorder of extremity\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication 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\16p12.1p12.3 triplication 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\16p12.1p12.3 triplication syndrome
\Disease\Congenital disease\Congenital malformation\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\16p12.1p12.3 triplication syndrome
\Disease\Congenital disease\Congenital malformation\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\16p12.1p12.3 triplication syndrome
\Disease\Congenital disease\Congenital malformation\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\16p12.1p12.3 triplication syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 16\16p12.1p12.3 triplication syndrome
\Disease\Developmental disorder\Congenital malformation\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\16p12.1p12.3 triplication syndrome
\Disease\Developmental disorder\Congenital malformation\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\16p12.1p12.3 triplication syndrome
\Disease\Developmental disorder\Congenital malformation\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\16p12.1p12.3 triplication syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\16p12.1p12.3 triplication syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\16p12.1p12.3 triplication syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\16p12.1p12.3 triplication syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5133531011 16p12.1p12.3 triplication syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5133532016 16p12.1p12.3 triplication syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

5133533014 Tetrasomy 16p12.1p12.3 en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
16p12.1p12.3 triplication syndrome	Is a	Congenital anomaly of finger	true	Inferred relationship	Existential restriction modifier
16p12.1p12.3 triplication syndrome	Is a	Global developmental delay	true	Inferred relationship	Existential restriction modifier
16p12.1p12.3 triplication syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
16p12.1p12.3 triplication syndrome	Is a	Anomaly of chromosome pair 16	true	Inferred relationship	Existential restriction modifier
16p12.1p12.3 triplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
16p12.1p12.3 triplication syndrome	Finding site	Short arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
16p12.1p12.3 triplication syndrome	Associated morphology	Tetrasomy	true	Inferred relationship	Existential restriction modifier	1
16p12.1p12.3 triplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
16p12.1p12.3 triplication syndrome	Finding site	Chromosome pair 16	true	Inferred relationship	Existential restriction modifier	2
16p12.1p12.3 triplication syndrome	Associated morphology	Tetrasomy	true	Inferred relationship	Existential restriction modifier	2
16p12.1p12.3 triplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
16p12.1p12.3 triplication syndrome	Finding site	Finger structure	true	Inferred relationship	Existential restriction modifier	3
16p12.1p12.3 triplication syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
16p12.1p12.3 triplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
16p12.1p12.3 triplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
16p12.1p12.3 triplication syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	4
16p12.1p12.3 triplication syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
16p12.1p12.3 triplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5133531011	16p12.1p12.3 triplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5133532016	16p12.1p12.3 triplication syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5133533014	Tetrasomy 16p12.1p12.3	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module