703535000: Mowat-Wilson syndrome (disorder)

\Disorder of intestine\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Mowat-Wilson syndrome
\Disorder of intestine\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Mowat-Wilson syndrome
\Disorder of intestine\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Mowat-Wilson syndrome
\Disorder of intestine\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Mowat-Wilson syndrome
\Disorder of intestine\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Mowat-Wilson syndrome
\Disorder of intestine\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Mowat-Wilson syndrome
\Disorder of intestine\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Mowat-Wilson syndrome

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

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Mowat-Wilson syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Mowat-Wilson syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Mowat-Wilson syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3008947016 Mowat-Wilson syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3009030013 Microcephaly, mental retardation and distinct features, with or without Hirschsprung disease en Synonym Inactive Only initial character case insensitive SNOMED CT core module
3009119013 Mowat-Wilson syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3009165011 Hirschsprung disease-mental retardation syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3643142016 Hirschsprung disease-intellectual disability syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mowat-Wilson syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Mowat-Wilson syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Mowat-Wilson syndrome	Is a	Hirschsprung's disease	true	Inferred relationship	Existential restriction modifier
Mowat-Wilson syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Mowat-Wilson syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Mowat-Wilson syndrome	Finding site	Parasympathetic nervous system structure	false	Inferred relationship	Existential restriction modifier
Mowat-Wilson syndrome	Finding site	Autonomic nerve structure	true	Inferred relationship	Existential restriction modifier	3
Mowat-Wilson syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Existential restriction modifier	4
Mowat-Wilson syndrome	Associated morphology	Congenital hypertrophy	false	Inferred relationship	Existential restriction modifier	4
Mowat-Wilson syndrome	Finding site	Colon structure	false	Inferred relationship	Existential restriction modifier	4
Mowat-Wilson syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Mowat-Wilson syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Mowat-Wilson syndrome	Finding site	Structure of large intestine	false	Inferred relationship	Existential restriction modifier	5
Mowat-Wilson syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Mowat-Wilson syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Existential restriction modifier	1
Mowat-Wilson syndrome	Finding site	Colon structure	false	Inferred relationship	Existential restriction modifier	1
Mowat-Wilson syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Mowat-Wilson syndrome	Associated morphology	Congenital hypertrophy	false	Inferred relationship	Existential restriction modifier	2
Mowat-Wilson syndrome	Finding site	Colon structure	false	Inferred relationship	Existential restriction modifier	2
Mowat-Wilson syndrome	Is a	Inherited autonomic nervous system disorder	true	Inferred relationship	Existential restriction modifier
Mowat-Wilson syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Mowat-Wilson syndrome	Finding site	Large intestine part	false	Inferred relationship	Existential restriction modifier	3
Mowat-Wilson syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Mowat-Wilson syndrome	Finding site	Large intestine part	false	Inferred relationship	Existential restriction modifier	4
Mowat-Wilson syndrome	Associated morphology	Congenital hypertrophy	false	Inferred relationship	Existential restriction modifier	3
Mowat-Wilson syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Mowat-Wilson syndrome	Finding site	Large intestine part	true	Inferred relationship	Existential restriction modifier	1
Mowat-Wilson syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Mowat-Wilson syndrome	Finding site	Large intestine part	true	Inferred relationship	Existential restriction modifier	2
Mowat-Wilson syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Mowat-Wilson syndrome	Associated morphology	Hypertrophy	true	Inferred relationship	Existential restriction modifier	2
Mowat-Wilson syndrome	Associated morphology	Dilatation	true	Inferred relationship	Existential restriction modifier	1
Mowat-Wilson syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Mowat-Wilson syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Mowat-Wilson syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Mowat-Wilson syndrome	Finding site	Structure of peripheral part of autonomic nervous system	true	Inferred relationship	Existential restriction modifier	4
Mowat-Wilson syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Mowat-Wilson syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Mowat-Wilson syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
Mowat-Wilson syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Mowat-Wilson syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	6
Mowat-Wilson syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mowat-Wilson syndrome due to monosomy 2q22	Is a	True	Mowat-Wilson syndrome	Inferred relationship	Existential restriction modifier

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	SNOMED CT core module
3009030013	Microcephaly, mental retardation and distinct features, with or without Hirschsprung disease	en	Synonym	Inactive	Only initial character case insensitive	SNOMED CT core module
3009119013	Mowat-Wilson syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3009165011	Hirschsprung disease-mental retardation syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3643142016	Hirschsprung disease-intellectual disability syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module