715952000: Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)

\Motility disorder of large intestine\Hirschsprung's disease\Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)

\Congenital hearing disorder\Waardenburg's syndrome\Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)

\Hearing loss\Hearing loss associated with syndrome\Waardenburg's syndrome\Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)

Descriptions:

Id Description Lang Type Status Case? Module

3304233015 Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3304234014 Waardenburg syndrome co-occurrent with Hirschsprung disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3304235010 Waardenburg Shah syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3304236011 Waardenburg Hirschsprung syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3304237019 Shah Waardenburg syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3304238012 Waardenburg syndrome type 4 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3304239016 The association of Waardenburg syndrome and Hirschsprung disease. Patients present in the neonatal period with pigmentary anomalies (including white forelock, white eyebrows and eyelashes, white skin patches and pigmentary anomalies of the irides) in association with intestinal obstruction. Neurosensorial deafness is common and early, and may be unilateral. Psychomotor development is normal. Three disease-causing genes have been identified so far: EDNRB (13q22.3) encoding the endothelin-B receptor, EDN3 (20q13.32) encoding an endothelin receptor ligand and SOX10 (22q13.1) encoding the SOX10 transcription factor. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3861651000052110 Waardenburg-Shahs syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Is a	Waardenburg's syndrome	true	Inferred relationship	Some
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Is a	Hirschsprung's disease	true	Inferred relationship	Some
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Finding site	Parasympathetic nervous system structure	false	Inferred relationship	Some
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Finding site	Autonomic nerve structure	true	Inferred relationship	Some	5
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Finding site	Colon structure	false	Inferred relationship	Some	6
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	7
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	8
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Associated morphology	kongenital dilatation	false	Inferred relationship	Some	6
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Finding site	Colon structure	false	Inferred relationship	Some	7
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	8
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Finding site	Face structure	false	Inferred relationship	Some	8
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Associated morphology	kongenital hypertrofi	false	Inferred relationship	Some	7
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Is a	Inherited autonomic nervous system disorder (disorder)	true	Inferred relationship	Some
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Associated morphology	kongenital dilatation	false	Inferred relationship	Some	1
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Finding site	Large intestine part	true	Inferred relationship	Some	1
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Finding site	Large intestine part	true	Inferred relationship	Some	2
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Associated morphology	kongenital hypertrofi	false	Inferred relationship	Some	1
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Associated morphology	kongenital dilatation	false	Inferred relationship	Some	2
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Finding site	Ear structure	true	Inferred relationship	Some	3
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	4
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	4
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Associated morphology	kongenital hypopigmentering	false	Inferred relationship	Some	3
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	3
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Associated morphology	Hypertrophy	true	Inferred relationship	Some	2
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Associated morphology	Hypopigmentation	true	Inferred relationship	Some	4
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Associated morphology	Dilatation	true	Inferred relationship	Some	1
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	5
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	5
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Interprets	Hearing	true	Inferred relationship	Some	6
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Finding site	Structure of peripheral part of autonomic nervous system (body structure)	true	Inferred relationship	Some	7
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	7
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	7

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
3304233015	Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3304234014	Waardenburg syndrome co-occurrent with Hirschsprung disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3304235010	Waardenburg Shah syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3304236011	Waardenburg Hirschsprung syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3304237019	Shah Waardenburg syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3304238012	Waardenburg syndrome type 4	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3304239016	The association of Waardenburg syndrome and Hirschsprung disease. Patients present in the neonatal period with pigmentary anomalies (including white forelock, white eyebrows and eyelashes, white skin patches and pigmentary anomalies of the irides) in association with intestinal obstruction. Neurosensorial deafness is common and early, and may be unilateral. Psychomotor development is normal. Three disease-causing genes have been identified so far: EDNRB (13q22.3) encoding the endothelin-B receptor, EDN3 (20q13.32) encoding an endothelin receptor ligand and SOX10 (22q13.1) encoding the SOX10 transcription factor.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3861651000052110	Waardenburg-Shahs syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)