721221000: Hirschsprung disease with deafness and polydactyly syndrome (disorder)

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

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

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

Descriptions:

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	Congenital dilatation	false	Inferred relationship	Some	8
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Associated morphology	Congenital hypertrophy	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	Congenital dilatation	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	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	true	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

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
3324656012	Hirschsprung disease with deafness and polydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324657015	Hirschsprung disease with deafness and polydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324658013	Santos Mateus Leal syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324659017	An extremely rare malformative association, described in only two siblings to date with characteristics of Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
876221000172116	syndrome de maladie de Hirschsprung-polydactylie-surdité	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
912021000172110	syndrome de Santos-Mateus-Leal	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
884091000172113	syndroom van Santos-Mateus-Leal	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
998651000172110	ziekte van Hirschsprung, doofheid, polydactylie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)