715952000: Waardenburg Shah syndrome (disorder)

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\...

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

Id Description Lang Type Status Case? Module

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

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

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	Kongenit dilatation	false	Inferred relationship	Some	6
Waardenburg Shah syndrome	Finding site	Colon structure	false	Inferred relationship	Some	7
Waardenburg Shah syndrome	Associated morphology	dysgenese	false	Inferred relationship	Some	8
Waardenburg Shah syndrome	Finding site	Face structure	false	Inferred relationship	Some	8
Waardenburg Shah syndrome	Associated morphology	kongenit hypertrofi	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	Kongenit dilatation	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	kongenit hypertrofi	false	Inferred relationship	Some	1
Waardenburg Shah syndrome	Associated morphology	Kongenit dilatation	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	Kongenit hypopigmentering	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	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
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
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