703535000: Mowat-Wilson-syndroom (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Bowel finding\...

\Finding of large intestine\Disorder of large intestine\...

\Dilatation of large intestine\Congenital aganglionic megacolon\Mowat-Wilson syndrome (disorder)

\Motility disorder of large intestine\Congenital aganglionic megacolon\Mowat-Wilson syndrome (disorder)

\Congenital anomaly of large intestine\Aganglionosis of large intestine (disorder)\Congenital aganglionic megacolon\Mowat-Wilson syndrome (disorder)

\Disorder of intestine\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Congenital aganglionic megacolon\Mowat-Wilson syndrome (disorder)
\Disorder of intestine\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine (disorder)\Congenital aganglionic megacolon\Mowat-Wilson syndrome (disorder)
\Disorder of intestine\Disorder of large intestine\Dilatation of large intestine\Congenital aganglionic megacolon\Mowat-Wilson syndrome (disorder)
\Disorder of intestine\Disorder of large intestine\Motility disorder of large intestine\Congenital aganglionic megacolon\Mowat-Wilson syndrome (disorder)
\Disorder of intestine\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine (disorder)\Congenital aganglionic megacolon\Mowat-Wilson syndrome (disorder)
\Disorder of intestine\Dilatation of intestine\Dilatation of large intestine\Congenital aganglionic megacolon\Mowat-Wilson syndrome (disorder)
\Disorder of intestine\Dilatation of intestine\Congenital dilatation of intestinal tract\Congenital aganglionic megacolon\Mowat-Wilson syndrome (disorder)
\Disorder of intestine\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Congenital aganglionic megacolon\Mowat-Wilson syndrome (disorder)
\Disorder of intestine\Intestinal autonomic neuropathy\Aganglionosis of large intestine (disorder)\Congenital aganglionic megacolon\Mowat-Wilson syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Mowat-Wilson syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Mowat-Wilson syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Mowat-Wilson syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Mowat-Wilson syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mowat-Wilson syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Mowat-Wilson syndrome (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Mowat-Wilson syndrome (disorder)	Is a	Congenital aganglionic megacolon	true	Inferred relationship	Some
Mowat-Wilson syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Mowat-Wilson syndrome (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
Mowat-Wilson syndrome (disorder)	Finding site	Parasympathetic nervous system structure	false	Inferred relationship	Some
Mowat-Wilson syndrome (disorder)	Finding site	Autonomic nerve structure	true	Inferred relationship	Some	3
Mowat-Wilson syndrome (disorder)	Associated morphology	congenitale dilatatie (afwijkende morfologie)	false	Inferred relationship	Some	4
Mowat-Wilson syndrome (disorder)	Associated morphology	congenitale hypertrofie (afwijkende morfologie)	false	Inferred relationship	Some	4
Mowat-Wilson syndrome (disorder)	Finding site	Colon structure	false	Inferred relationship	Some	4
Mowat-Wilson syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Mowat-Wilson syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	5
Mowat-Wilson syndrome (disorder)	Finding site	Structure of large intestine (body structure)	false	Inferred relationship	Some	5
Mowat-Wilson syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Mowat-Wilson syndrome (disorder)	Associated morphology	congenitale dilatatie (afwijkende morfologie)	false	Inferred relationship	Some	1
Mowat-Wilson syndrome (disorder)	Finding site	Colon structure	false	Inferred relationship	Some	1
Mowat-Wilson syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Mowat-Wilson syndrome (disorder)	Associated morphology	congenitale hypertrofie (afwijkende morfologie)	false	Inferred relationship	Some	2
Mowat-Wilson syndrome (disorder)	Finding site	Colon structure	false	Inferred relationship	Some	2
Mowat-Wilson syndrome (disorder)	Is a	Inherited autonomic nervous system disorder (disorder)	true	Inferred relationship	Some
Mowat-Wilson syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Mowat-Wilson syndrome (disorder)	Finding site	Large intestine part	false	Inferred relationship	Some	3
Mowat-Wilson syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Mowat-Wilson syndrome (disorder)	Finding site	Large intestine part	false	Inferred relationship	Some	4
Mowat-Wilson syndrome (disorder)	Associated morphology	congenitale hypertrofie (afwijkende morfologie)	false	Inferred relationship	Some	3
Mowat-Wilson syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Mowat-Wilson syndrome (disorder)	Finding site	Large intestine part	true	Inferred relationship	Some	1
Mowat-Wilson syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Mowat-Wilson syndrome (disorder)	Finding site	Large intestine part	true	Inferred relationship	Some	2
Mowat-Wilson syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Mowat-Wilson syndrome (disorder)	Associated morphology	Hypertrophy (morphologic abnormality)	true	Inferred relationship	Some	2
Mowat-Wilson syndrome (disorder)	Associated morphology	Dilatation	true	Inferred relationship	Some	1
Mowat-Wilson syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Mowat-Wilson syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Mowat-Wilson syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Mowat-Wilson syndrome (disorder)	Finding site	Structure of peripheral part of autonomic nervous system (body structure)	true	Inferred relationship	Some	4
Mowat-Wilson syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Mowat-Wilson syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Mowat-Wilson syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
Mowat-Wilson syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Mowat-Wilson syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Mowat-Wilson syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mowat-Wilson syndrome due to monosomy 2q22 (disorder)	Is a	True	Mowat-Wilson syndrome (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3008947016	Mowat-Wilson syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3009119013	Mowat-Wilson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3009165011	Hirschsprung disease-mental retardation syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643142016	Hirschsprung disease-intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6796601000146114	syndroom van Mowat-Wilson	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6796621000146118	syndroom van ziekte van Hirschsprung en mentale retardatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10670761000146112	Mowat-Wilson-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10670771000146118	Mowat-Wilson-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10723651000146117	syndroom van ziekte van Hirschsprung en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10723661000146119	syndroom van ziekte van Hirschsprung en verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)