6q16 microdeletion syndrome 1003380001

SNOMED CT code

SNOMED code

1003380001

name

6q16 microdeletion syndrome

status

active

date introduced

2021-01-31

fully specified name(s)

6q16 microdeletion syndrome (disorder)

synonyms

Prader-Willi-like syndrome due to microdeletion 6q16
6q16 microdeletion syndrome
Obesity due to 6q16 deletion

attributes - group2

Interprets

Body weight measure 363808001

Has interpretation

Above reference range 281302008

attributes - group3

Associated morphology

Deletion of long arm 64329008

Occurrence

Congenital 255399007

Finding site

Chromosome pair 6 45202000

attributes - group4

Finding site

Gonadal endocrine structure 304041004

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

attributes - group5

Finding site

Structure of distal part of pituitary 52618001

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

attributes - group6

Associated morphology

Partial monosomy 371169004

Finding site

Chromosome pair 6 45202000

Occurrence

Congenital 255399007

attributes - group7

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

parents

Deletion of part of long arm of chromosome 6 726375005
Prader-Willi-like syndrome 770680004

hierarchies

a selection of possible paths

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 6 44710007
Deletion of part of chromosome 6 726374009
Deletion of part of long arm of chromosome 6 726375005
6q16 microdeletion syndrome 1003380001

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Prader-Willi-like syndrome 770680004
6q16 microdeletion syndrome 1003380001

ancestors

sorted most to least specific

Deletion of part of long arm of chromosome 6 726375005
Prader-Willi-like syndrome 770680004
Deletion of part of chromosome 6 726374009
Obesity 414916001
Multiple malformation syndrome with unusual brain and/or neuromuscular findings 64162006
Multiple malformation syndrome with facial defects as major feature 65094009
Congenital hypogonadotropic hypogonadism 722944006
Genetic disease 782964007
Deletion of part of autosome 254274004
Obese 414915002
Anomaly of chromosome pair 6 44710007
Multiple system malformation syndrome 82354003
Congenital anomaly of face 398302004
Hypogonadotropic hypogonadism 33927004
Monosomy and deletion from autosome 205627002
High body weight 840358001
Congenital malformation syndrome 400038003
Disorder of face 118930001
Hypogonadism 48130008
Congenital anomaly of head 87290003
Disorder of anterior pituitary 51742006
Hypopituitarism 74728003
Anomaly of chromosome pair 362984008
Weight finding 107647005
Congenital malformation 276654001
Disorder of endocrine gonad 127345001
Finding of face 301310005
Disorder of pituitary gland 399244003
Congenital chromosomal disease 74345006
Body measurement finding 365605003
Developmental disorder 5294002
Genital finding 300479008
Finding of head region 298364001
Disorder of endocrine system 362969004
Disorder of reproductive system 362968007
Disorder of brain 81308009
Chromosomal disorder 409709004
Congenital disease 66091009
Disorder of head 118934005
Disorder of the genitourinary system 42030000
Disorder of the central nervous system 23853001
Finding of brain 299718000
Head finding 406122000
Urogenital finding 118238000
Disorder of abdominopelvic segment of trunk 822988000
Disorder of nervous system 118940003
Central nervous system finding 246556002
Finding of head and neck region 118254002
Finding of abdominopelvic segment of trunk 822987005
Disorder of body system 362965005
Disorder of trunk 128121009
Disease 64572001
Finding of trunk structure 302292003
Clinical finding 404684003
SNOMED CT Concept 138875005

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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 6 44710007

Deletion of part of chromosome 6 726374009

Deletion of part of long arm of chromosome 6 726375005

6q16 microdeletion syndrome 1003380001

SNOMED CT code