Goldberg Shprintzen megacolon syndrome 717822006

SNOMED CT code

SNOMED code

717822006

name

Goldberg Shprintzen megacolon syndrome

status

active

date introduced

2017-01-31

fully specified name(s)

Goldberg Shprintzen megacolon syndrome (disorder)

synonyms

Goldberg Shprintzen megacolon syndrome
Megacolon microcephaly syndrome

attributes - group4

Occurrence

Congenital 255399007

Finding site

Large intestine part 119214008

Pathological process

Pathological developmental process 308490002

Associated morphology

Dilatation 25322007

attributes - group3

Occurrence

Congenital 255399007

Associated morphology

Congenital smallness 41086002

Pathological process

Pathological developmental process 308490002

Finding site

Head structure 69536005

attributes - group5

Occurrence

Congenital 255399007

Finding site

Large intestine part 119214008

Pathological process

Pathological developmental process 308490002

Associated morphology

Hypertrophy 56246009

attributes - group2

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Palatal structure 72914001

Associated morphology

Developmental failure of fusion 371520008

attributes - group1

Pathological process

Pathological developmental process 308490002

Finding site

Face structure 89545001

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

attributes - group6

Occurrence

Congenital 255399007

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Finding site

Autonomic nerve structure 53520000

attributes - group8

Finding site

Structure of peripheral part of autonomic nervous system 429921001

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

attributes - group7

Interprets

Birth head circumference 169876006

Has interpretation

Below reference range 281300000

attributes - group9

Interprets

Intellectual ability 247573007

Has interpretation

Impaired 260379002

attributes - group10

Interprets

Adaptation behavior 406208005

Has interpretation

Impaired 260379002

parents

Intellectual disability 110359009
Congenital microcephaly 1148758003
Hirschsprung's disease 204739008
Developmental hereditary disorder 363070008
Digestive system hereditary disorder 363080007
Multiple malformation syndrome with facial defects as major feature 65094009
Inherited autonomic nervous system disorder 722997000
Autosomal recessive hereditary disorder 85995004
Cleft palate 87979003

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Mental state, behavior and/or psychosocial function finding 384821006
Behavior finding 844005
Intellectual disability 110359009
Goldberg Shprintzen megacolon syndrome 717822006

SNOMED CT Concept 138875005
Clinical finding 404684003
Body measurement finding 365605003
Finding of head circumference 301338002
Microcephaly 1148757008
Congenital microcephaly 1148758003
Goldberg Shprintzen megacolon syndrome 717822006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of body system 362965005
Disorder of nervous system 118940003
Disorder of the peripheral nervous system 42658009
Congenital anomaly of the peripheral nervous system 22133005
Hirschsprung's disease 204739008
Goldberg Shprintzen megacolon syndrome 717822006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Goldberg Shprintzen megacolon syndrome 717822006

SNOMED CT Concept 138875005
Clinical finding 404684003
Digestive system finding 386617003
Disorder of digestive system 53619000
Digestive system hereditary disorder 363080007
Goldberg Shprintzen megacolon syndrome 717822006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of head 118934005
Disorder of face 118930001
Congenital anomaly of face 398302004
Multiple malformation syndrome with facial defects as major feature 65094009
Goldberg Shprintzen megacolon syndrome 717822006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of body system 362965005
Disorder of nervous system 118940003
Disorder of autonomic nervous system 15241006
Inherited autonomic nervous system disorder 722997000
Goldberg Shprintzen megacolon syndrome 717822006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Goldberg Shprintzen megacolon syndrome 717822006

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of head and neck region 118254002
Head finding 406122000
Finding of head region 298364001
Orofacial cleft 449790007
Cleft palate 87979003
Goldberg Shprintzen megacolon syndrome 717822006

ancestors

sorted most to least specific

Intellectual disability 110359009
Congenital microcephaly 1148758003
Hirschsprung's disease 204739008
Developmental hereditary disorder 363070008
Digestive system hereditary disorder 363080007
Multiple malformation syndrome with facial defects as major feature 65094009
Inherited autonomic nervous system disorder 722997000
Autosomal recessive hereditary disorder 85995004
Cleft palate 87979003
Intellectual ability - finding 365814006
Microcephaly 1148757008
Congenital anomaly of the peripheral nervous system 22133005
Congenital anomaly of face 398302004
Autosomal hereditary disorder 1899006
Congenital anomaly of palate 128336000
Impaired cognition 386806002
Neurodevelopmental disorder 700364009
Behavior finding 844005
Aganglionosis of large intestine 723183004
Motility disorder of large intestine 737198009
Congenital dilatation of intestinal tract 93058003
Multiple system malformation syndrome 82354003
Hereditary disorder of nervous system 363235000
Orofacial cleft 449790007
Intelligence finding 106137004
Finding of head circumference 301338002
Hereditary disorder by system 363137000
Disorder of face 118930001
Disorder of palate 128337009
Cognitive function finding 373930000
Mental state, behavior and/or psychosocial function finding 384821006
Congenital anomaly of large intestine 1492007
Congenital malformation syndrome 400038003
Intestinal autonomic neuropathy 45299002
Congenital malformation of autonomic nervous system 722996009
Motility disorder of intestine 235823004
Dilatation of intestine 86247009
Craniofacial cleft 764517009
Functional finding 118228005
Body measurement finding 365605003
Hereditary disease 32895009
Congenital anomaly of head 87290003
Disorder of large intestine 119523007
Congenital anomaly of intestinal tract 126764002
Congenital anomaly of nervous system 88425004
Finding of face 301310005
Palate finding 249390006
Disorder of peripheral autonomic nervous system 128123007
Functional disorder of intestine 81120009
Dilatation of gastrointestinal tract 735499005
Autonomic neuropathy 277879009
Disorder of the peripheral nervous system 42658009
Genetic disease 782964007
Disorder of head 118934005
Disorder of autonomic nervous system 15241006
Finding of large intestine 118436003
Congenital anomaly of digestive organ 128332003
Finding of head region 298364001
Disorder of intestine 85919009
Congenital anomaly of lower alimentary tract 31686000
Neuropathy 386033004
Disorder of nervous system 118940003
Head finding 406122000
Bowel finding 249562008
Congenital anomaly of gastrointestinal tract 128347007
Disorder of digestive organ 76712006
Disorder of lower gastrointestinal tract 79787007
Congenital anomaly of abdomen 363024001
Finding of head and neck region 118254002
Abdominal organ finding 249561001
Disorder of gastrointestinal tract 119292006
Disorder of abdomen 118948005
Congenital anomaly of digestive tract 95470009
Congenital anomaly of lower trunk 363030001
Viscus structure finding 406123005
Congenital anomaly of digestive system 69518005
Gastrointestinal tract finding 386618008
Finding of abdomen 609624008
Disorder of digestive tract 84410009
Disorder of abdominopelvic segment of trunk 822988000
Congenital abnormality of lower limb and pelvic girdle 253937004
Congenital anomaly of trunk 78626001
Congenital malformation 276654001
Disorder of digestive system 53619000
Finding of abdominopelvic segment of trunk 822987005
Disorder of trunk 128121009
Disorder of body system 362965005
Developmental disorder 5294002
Digestive system finding 386617003
Finding of trunk structure 302292003
Congenital disease 66091009
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Mental state, behavior and/or psychosocial function finding 384821006

Behavior finding 844005

Intellectual disability 110359009

Goldberg Shprintzen megacolon syndrome 717822006

SNOMED CT code