16p12.1p12.3 triplication syndrome 1251450006

SNOMED CT code

SNOMED code

1251450006

name

16p12.1p12.3 triplication syndrome

status

active

date introduced

2022-09-30

fully specified name(s)

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

synonyms

16p12.1p12.3 triplication syndrome
Tetrasomy 16p12.1p12.3

attributes - group1

Occurrence

Congenital 255399007

Finding site

Short arm of chromosome 278145009

Associated morphology

Tetrasomy 29996004

attributes - group2

Occurrence

Congenital 255399007

Finding site

Chromosome pair 16 39220001

Associated morphology

Tetrasomy 29996004

attributes - group3

Occurrence

Congenital 255399007

Finding site

Finger structure 7569003

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

attributes - group4

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

parents

Congenital anomaly of finger 20948006
Global developmental delay 224958001
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Anomaly of chromosome pair 16 53392002

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Disorder of limb 128605003
Disorder of digit 128597007
Congenital anomaly of digit 403855001
Congenital anomaly of finger 20948006
16p12.1p12.3 triplication syndrome 1251450006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental delay 248290002
Global developmental delay 224958001
16p12.1p12.3 triplication syndrome 1251450006

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Disorder of limb 128605003
Congenital anomaly of limb 60475009
Multiple malformation syndrome with facial-limb defects as major feature 23359005
16p12.1p12.3 triplication syndrome 1251450006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Chromosomal disorder 409709004
Congenital chromosomal disease 74345006
Anomaly of chromosome pair 362984008
Anomaly of chromosome pair 16 53392002
16p12.1p12.3 triplication syndrome 1251450006

ancestors

sorted most to least specific

Congenital anomaly of finger 20948006
Global developmental delay 224958001
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Anomaly of chromosome pair 16 53392002
Disorder of finger 128618006
Developmental delay 248290002
Multiple malformation syndrome with limb defect as major feature 41443008
Anomaly of chromosome pair 362984008
Congenital anomaly of hand 34111000
Congenital anomaly of digit 403855001
Multiple malformation syndrome with facial defects as major feature 65094009
Disorder of hand 118933004
Multiple system malformation syndrome 82354003
Congenital chromosomal disease 74345006
Disorder of digit 128597007
Finding of finger 313133004
Congenital anomaly of face 398302004
Congenital anomaly of upper limb 66510004
Congenital malformation syndrome 400038003
Chromosomal disorder 409709004
Finding of digit of hand 313132009
Disorder of upper limb 118947000
Congenital anomaly of limb 60475009
Disorder of face 118930001
Congenital anomaly of head 87290003
Finding of hand region 116311003
Congenital malformation 276654001
Disorder of limb 128605003
Disorder of head 118934005
Finding of face 301310005
Finding of upper limb 116307009
Developmental disorder 5294002
Congenital disease 66091009
Finding of head region 298364001
Finding of limb structure 302293008
Disease 64572001
Head finding 406122000
Finding of head and neck region 118254002
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Finding of limb structure 302293008

Disorder of limb 128605003

Disorder of digit 128597007

Congenital anomaly of digit 403855001

Congenital anomaly of finger 20948006

16p12.1p12.3 triplication syndrome 1251450006

SNOMED CT code