721221000: syndroom van ziekte van Hirschsprung, doofheid en polydactylie (aandoening)

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Hirschsprung disease with deafness and polydactyly syndrome (disorder)
\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Hirschsprung disease with deafness and polydactyly syndrome (disorder)

\Functional finding\Finding of sensory function\...

\Disorder of sensory function (disorder)\Hirschsprung disease with deafness and polydactyly syndrome (disorder)

\Hearing finding (finding)\Hearing disorder\...

\Congenital hearing disorder\Congenital hearing loss (disorder)\Hirschsprung disease with deafness and polydactyly syndrome (disorder)

\Hearing loss\Congenital hearing loss (disorder)\Hirschsprung disease with deafness and polydactyly syndrome (disorder)
\Hearing loss\Hearing loss associated with syndrome\Hirschsprung disease with deafness and polydactyly syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomi/snomed/11000146104-20240930/?type=snomed&id=735499005">Dilatation of gastrointestinal tract (disorder)\Dilatation of intestine\Congenital dilatation of intestinal tract\Congenital dilatation of colon\Hirschsprung disease with deafness and polydactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Congenital aganglionic megacolon\Hirschsprung disease with deafness and polydactyly syndrome (disorder)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Is a	Congenital aganglionic megacolon	true	Inferred relationship	Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Is a	Polydactyly (disorder)	true	Inferred relationship	Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Finding site	Parasympathetic nervous system structure	false	Inferred relationship	Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Finding site	Autonomic nerve structure	true	Inferred relationship	Some	4
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	5
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	8
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Finding site	Colon structure	false	Inferred relationship	Some	8
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	9
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Finding site	Colon structure	false	Inferred relationship	Some	9
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Associated morphology	congenitale dilatatie (afwijkende morfologie)	false	Inferred relationship	Some	8
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Associated morphology	congenitale hypertrofie (afwijkende morfologie)	false	Inferred relationship	Some	9
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Is a	Inherited autonomic nervous system disorder (disorder)	true	Inferred relationship	Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Is a	Congenital dilatation of colon	true	Inferred relationship	Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	10
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Associated morphology	Supernumerary structure	false	Inferred relationship	Some	10
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	10
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Finding site	Colon structure	true	Inferred relationship	Some	2
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Finding site	Colon structure	true	Inferred relationship	Some	3
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Associated morphology	congenitale dilatatie (afwijkende morfologie)	false	Inferred relationship	Some	3
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	1
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	1
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Associated morphology	Hypertrophy (morphologic abnormality)	true	Inferred relationship	Some	2
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Associated morphology	Dilatation	true	Inferred relationship	Some	3
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	5
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	6
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	5
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Finding site	Structure of peripheral part of autonomic nervous system (body structure)	true	Inferred relationship	Some	7
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	7
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	7
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	7
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Is a	Congenital hearing loss (disorder)	true	Inferred relationship	Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Is a	Disorder of sensory function (disorder)	true	Inferred relationship	Some

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets