703535000: Mowat-Wilson syndrome (disorder)

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

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

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

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Mowat-Wilson syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Mowat-Wilson syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\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	Existential restriction modifier (core metadata concept)
Mowat-Wilson syndrome (disorder)	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mowat-Wilson syndrome (disorder)	Is a	Congenital aganglionic megacolon (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mowat-Wilson syndrome (disorder)	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mowat-Wilson syndrome (disorder)	Is a	retard mental	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mowat-Wilson syndrome (disorder)	Finding site	Parasympathetic nervous system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mowat-Wilson syndrome (disorder)	Finding site	Autonomic nerve structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mowat-Wilson syndrome (disorder)	Associated morphology	Congenital dilatation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mowat-Wilson syndrome (disorder)	Associated morphology	hypertrophie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mowat-Wilson syndrome (disorder)	Finding site	Colon structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mowat-Wilson syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Mowat-Wilson syndrome (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Mowat-Wilson syndrome (disorder)	Finding site	Structure of large intestine (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Mowat-Wilson syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mowat-Wilson syndrome (disorder)	Associated morphology	Congenital dilatation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mowat-Wilson syndrome (disorder)	Finding site	Colon structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mowat-Wilson syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mowat-Wilson syndrome (disorder)	Associated morphology	hypertrophie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mowat-Wilson syndrome (disorder)	Finding site	Colon structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mowat-Wilson syndrome (disorder)	Is a	Inherited autonomic nervous system disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mowat-Wilson syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mowat-Wilson syndrome (disorder)	Finding site	Large intestine part	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mowat-Wilson syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mowat-Wilson syndrome (disorder)	Finding site	Large intestine part	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mowat-Wilson syndrome (disorder)	Associated morphology	hypertrophie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mowat-Wilson syndrome (disorder)	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mowat-Wilson syndrome (disorder)	Finding site	Large intestine part	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mowat-Wilson syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mowat-Wilson syndrome (disorder)	Finding site	Large intestine part	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mowat-Wilson syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mowat-Wilson syndrome (disorder)	Associated morphology	Hypertrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mowat-Wilson syndrome (disorder)	Associated morphology	Dilatation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mowat-Wilson syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mowat-Wilson syndrome (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mowat-Wilson syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mowat-Wilson syndrome (disorder)	Finding site	Structure of peripheral part of autonomic nervous system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mowat-Wilson syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mowat-Wilson syndrome (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mowat-Wilson syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Mowat-Wilson syndrome (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Mowat-Wilson syndrome (disorder)	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Mowat-Wilson syndrome (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start

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
3008947016	Mowat-Wilson syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3009030013	Microcephaly, mental retardation and distinct features, with or without Hirschsprung disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3009030013	Microcephaly, mental retardation and distinct features, with or without Hirschsprung disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (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
3413311001000116	Mowat-Wilson-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
872201000172112	syndrome de Mowat-Wilson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
986031000172110	syndrome de maladie de Hirschsprung, déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
872201000172112	syndrome de Mowat-Wilson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
986031000172110	syndrome de maladie de Hirschsprung, déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3413311001000116	Mowat-Wilson-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module