715952000: Waardenburg-syndroom gelijktijdig met ziekte van Hirschsprung (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Waardenburg syndrome\Waardenburg Shah syndrome
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Waardenburg syndrome\Waardenburg Shah syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome

\Viscus structure finding (finding)\Abdominal organ finding\Bowel finding\...

\Finding of large intestine\Disorder of large intestine\...

\Dilatation of large intestine\Congenital aganglionic megacolon\Waardenburg Shah syndrome

\Motility disorder of large intestine\Congenital aganglionic megacolon\Waardenburg Shah syndrome

\Congenital anomaly of large intestine\Aganglionosis of large intestine (disorder)\Congenital aganglionic megacolon\Waardenburg Shah syndrome

\Disorder of intestine\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Congenital aganglionic megacolon\Waardenburg Shah syndrome
\Disorder of intestine\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine (disorder)\Congenital aganglionic megacolon\Waardenburg Shah syndrome
\Disorder of intestine\Disorder of large intestine\Dilatation of large intestine\Congenital aganglionic megacolon\Waardenburg Shah syndrome
\Disorder of intestine\Disorder of large intestine\Motility disorder of large intestine\Congenital aganglionic megacolon\Waardenburg Shah syndrome
\Disorder of intestine\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine (disorder)\Congenital aganglionic megacolon\Waardenburg Shah syndrome
\Disorder of intestine\Dilatation of intestine\Dilatation of large intestine\Congenital aganglionic megacolon\Waardenburg Shah syndrome
\Disorder of intestine\Dilatation of intestine\Congenital dilatation of intestinal tract\Congenital aganglionic megacolon\Waardenburg Shah syndrome
\Disorder of intestine\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Congenital aganglionic megacolon\Waardenburg Shah syndrome
\Disorder of intestine\Intestinal autonomic neuropathy\Aganglionosis of large intestine (disorder)\Congenital aganglionic megacolon\Waardenburg Shah syndrome

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Waardenburg Shah syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Waardenburg Shah syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Waardenburg syndrome\Waardenburg Shah syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Waardenburg Shah syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Waardenburg syndrome\Waardenburg Shah syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg syndrome\Waardenburg Shah syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Waardenburg Shah syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Waardenburg Shah syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Waardenburg syndrome\Waardenburg Shah syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Waardenburg Shah syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Waardenburg syndrome\Waardenburg Shah syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg syndrome\Waardenburg Shah syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Waardenburg Shah syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Decreased hearing (finding)\Waardenburg syndrome\Waardenburg Shah syndrome

\Functional finding\Decline in functional status (finding)\Decreased hearing (finding)\Waardenburg syndrome\Waardenburg Shah syndrome
\Functional finding\Finding of sensory function\Disorder of sensory function (disorder)\Waardenburg Shah syndrome
\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Waardenburg Shah syndrome
\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Waardenburg syndrome\Waardenburg Shah syndrome
\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Waardenburg Shah syndrome
\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Waardenburg syndrome\Waardenburg Shah syndrome
\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg syndrome\Waardenburg Shah syndrome
\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Waardenburg Shah syndrome
\Functional finding\Finding of sensory function\Hearing finding (finding)\Decreased hearing (finding)\Waardenburg syndrome\Waardenburg Shah syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Waardenburg Shah syndrome	Is a	Waardenburg syndrome	true	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	Congenital aganglionic megacolon	true	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Waardenburg Shah syndrome	Finding site	Parasympathetic nervous system structure	false	Inferred relationship	Some
Waardenburg Shah syndrome	Finding site	Autonomic nerve structure	true	Inferred relationship	Some	5
Waardenburg Shah syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Waardenburg Shah syndrome	Finding site	Colon structure	false	Inferred relationship	Some	6
Waardenburg Shah syndrome	Occurrence	Congenital	true	Inferred relationship	Some	7
Waardenburg Shah syndrome	Occurrence	Congenital	false	Inferred relationship	Some	8
Waardenburg Shah syndrome	Associated morphology	congenitale dilatatie (afwijkende morfologie)	false	Inferred relationship	Some	6
Waardenburg Shah syndrome	Finding site	Colon structure	false	Inferred relationship	Some	7
Waardenburg Shah syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	8
Waardenburg Shah syndrome	Finding site	Face structure	false	Inferred relationship	Some	8
Waardenburg Shah syndrome	Associated morphology	congenitale hypertrofie (afwijkende morfologie)	false	Inferred relationship	Some	7
Waardenburg Shah syndrome	Is a	Inherited autonomic nervous system disorder (disorder)	true	Inferred relationship	Some
Waardenburg Shah syndrome	Associated morphology	congenitale dilatatie (afwijkende morfologie)	false	Inferred relationship	Some	1
Waardenburg Shah syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Waardenburg Shah syndrome	Finding site	Large intestine part	true	Inferred relationship	Some	1
Waardenburg Shah syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Waardenburg Shah syndrome	Finding site	Large intestine part	true	Inferred relationship	Some	2
Waardenburg Shah syndrome	Associated morphology	congenitale hypertrofie (afwijkende morfologie)	false	Inferred relationship	Some	1
Waardenburg Shah syndrome	Associated morphology	congenitale dilatatie (afwijkende morfologie)	false	Inferred relationship	Some	2
Waardenburg Shah syndrome	Finding site	Ear structure	false	Inferred relationship	Some	3
Waardenburg Shah syndrome	Finding site	Skin structure	true	Inferred relationship	Some	4
Waardenburg Shah syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Waardenburg Shah syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Waardenburg Shah syndrome	Finding site	Ear structure	false	Inferred relationship	Some	4
Waardenburg Shah syndrome	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	3
Waardenburg Shah syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Waardenburg Shah syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Waardenburg Shah syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Waardenburg Shah syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Waardenburg Shah syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Waardenburg Shah syndrome	Associated morphology	Hypertrophy (morphologic abnormality)	true	Inferred relationship	Some	2
Waardenburg Shah syndrome	Associated morphology	Hypopigmentation	true	Inferred relationship	Some	4
Waardenburg Shah syndrome	Associated morphology	Dilatation	true	Inferred relationship	Some	1
Waardenburg Shah syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Waardenburg Shah syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Waardenburg Shah syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	5
Waardenburg Shah syndrome	Interprets	Hearing	true	Inferred relationship	Some	6
Waardenburg Shah syndrome	Finding site	Structure of peripheral part of autonomic nervous system (body structure)	true	Inferred relationship	Some	7
Waardenburg Shah syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	7
Waardenburg Shah syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	7
Waardenburg Shah syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	6
Waardenburg Shah syndrome	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	3
Waardenburg Shah syndrome	Is a	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	Disorder of sensory function (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3304233015	Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	en	Fully specified name	Inactive	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
5143439013	Waardenburg Shah syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6927181000146112	syndroom van Waardenburg gelijktijdig met ziekte van Hirschsprung	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6927191000146114	Shah-Waardenburgsyndroom	nl	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6927201000146111	syndroom van Waardenburg gelijktijdig met ziekte van Hirschsprung (aandoening)	nl	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6927211000146113	syndroom van Waardenburg-Shah	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6927221000146115	Waardenburgsyndroom type 4	nl	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10672831000146112	Waardenburg-syndroom gelijktijdig met ziekte van Hirschsprung	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10672841000146116	Waardenburg-syndroom gelijktijdig met ziekte van Hirschsprung (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10672851000146118	Waardenburg-syndroom type 4	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10672861000146115	Shah-Waardenburg-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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