Mowat-Wilson syndrome due to monosomy 2q22 890118006

SNOMED CT code

SNOMED code

890118006

name

Mowat-Wilson syndrome due to monosomy 2q22

status

active

date introduced

2021-01-31

fully specified name(s)

Mowat-Wilson syndrome due to monosomy 2q22 (disorder)

synonyms

Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
Mowat-Wilson syndrome due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion

attributes - group3

Associated morphology

Dilatation 25322007

Occurrence

Congenital 255399007

Finding site

Large intestine part 119214008

Pathological process

Pathological developmental process 308490002

attributes - group4

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Autonomic nerve structure 53520000

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

attributes - group5

Associated morphology

Hypertrophy 56246009

Occurrence

Congenital 255399007

Finding site

Large intestine part 119214008

Pathological process

Pathological developmental process 308490002

attributes - group1

Due to

Deletion of part of long arm of chromosome 2 726367004

attributes - group2

Finding site

Structure of peripheral part of autonomic nervous system 429921001

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

attributes - group6

Interprets

Intellectual ability 247573007

Has interpretation

Impaired 260379002

attributes - group7

Interprets

Adaptation behavior 406208005

Has interpretation

Impaired 260379002

parents

Gastrointestinal complication 24813008
Mowat-Wilson syndrome 703535000

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Digestive system finding 386617003
Gastrointestinal tract finding 386618008
Disorder of gastrointestinal tract 119292006
Gastrointestinal complication 24813008
Mowat-Wilson syndrome due to monosomy 2q22 890118006

SNOMED CT Concept 138875005
Clinical finding 404684003
Mental state, behavior and/or psychosocial function finding 384821006
Behavior finding 844005
Intellectual disability 110359009
Mowat-Wilson syndrome 703535000
Mowat-Wilson syndrome due to monosomy 2q22 890118006

ancestors

sorted most to least specific

Gastrointestinal complication 24813008
Mowat-Wilson syndrome 703535000
Intellectual disability 110359009
Autosomal dominant hereditary disorder 11164009
Hirschsprung's disease 204739008
Developmental hereditary disorder 363070008
Digestive system hereditary disorder 363080007
Inherited autonomic nervous system disorder 722997000
Intellectual ability - finding 365814006
Autosomal hereditary disorder 1899006
Congenital anomaly of the peripheral nervous system 22133005
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
Hereditary disorder of nervous system 363235000
Intelligence finding 106137004
Hereditary disorder by system 363137000
Cognitive function finding 373930000
Mental state, behavior and/or psychosocial function finding 384821006
Congenital anomaly of large intestine 1492007
Intestinal autonomic neuropathy 45299002
Congenital malformation of autonomic nervous system 722996009
Motility disorder of intestine 235823004
Dilatation of intestine 86247009
Functional finding 118228005
Hereditary disease 32895009
Disorder of large intestine 119523007
Congenital anomaly of intestinal tract 126764002
Congenital anomaly of nervous system 88425004
Disorder of peripheral autonomic nervous system 128123007
Functional disorder of intestine 81120009
Dilatation of gastrointestinal tract 735499005
Autonomic neuropathy 277879009
Genetic disease 782964007
Disorder of the peripheral nervous system 42658009
Disorder of autonomic nervous system 15241006
Finding of large intestine 118436003
Congenital anomaly of digestive organ 128332003
Disorder of intestine 85919009
Congenital anomaly of lower alimentary tract 31686000
Neuropathy 386033004
Disorder of nervous system 118940003
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
Disorder of gastrointestinal tract 119292006
Abdominal organ finding 249561001
Disorder of abdomen 118948005
Congenital anomaly of digestive tract 95470009
Congenital anomaly of lower trunk 363030001
Gastrointestinal tract finding 386618008
Disorder of digestive tract 84410009
Viscus structure finding 406123005
Congenital anomaly of digestive system 69518005
Finding of abdomen 609624008
Disorder of abdominopelvic segment of trunk 822988000
Congenital abnormality of lower limb and pelvic girdle 253937004
Congenital anomaly of trunk 78626001
Disorder of digestive system 53619000
Congenital malformation 276654001
Finding of abdominopelvic segment of trunk 822987005
Disorder of trunk 128121009
Digestive system finding 386617003
Disorder of body system 362965005
Developmental disorder 5294002
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

Digestive system finding 386617003

Gastrointestinal tract finding 386618008

Disorder of gastrointestinal tract 119292006

Gastrointestinal complication 24813008

Mowat-Wilson syndrome due to monosomy 2q22 890118006

SNOMED CT code