715952000: Waardenburg Shah syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

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

\Motility disorder of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome

\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome

\Disorder of intestine\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disorder of intestine\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disorder of intestine\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disorder of intestine\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disorder of intestine\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disorder of intestine\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disorder of intestine\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome

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

\Functional finding\Decline in functional status\Decreased hearing\Waardenburg syndrome\Waardenburg Shah syndrome
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Waardenburg Shah syndrome
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Waardenburg syndrome\Waardenburg Shah syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg syndrome\Waardenburg Shah syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Waardenburg Shah syndrome
\Functional finding\Hearing finding\Decreased hearing\Waardenburg syndrome\Waardenburg Shah syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Waardenburg Shah syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg syndrome\Waardenburg Shah syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg syndrome\Waardenburg Shah syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg Shah syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3304234014 Waardenburg syndrome co-occurrent with Hirschsprung disease en Synonym Active Entire term case sensitive SNOMED CT core module

3304235010 Waardenburg Shah syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3304236011 Waardenburg Hirschsprung syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3304237019 Shah Waardenburg syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3304238012 Waardenburg syndrome type 4 en Synonym Active Entire term case sensitive SNOMED CT core module

5143439013 Waardenburg Shah syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Waardenburg Shah syndrome	Is a	Waardenburg syndrome	true	Inferred relationship	Existential restriction modifier
Waardenburg Shah syndrome	Is a	Hirschsprung's disease	true	Inferred relationship	Existential restriction modifier
Waardenburg Shah syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Waardenburg Shah syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Waardenburg Shah syndrome	Finding site	Parasympathetic nervous system structure	false	Inferred relationship	Existential restriction modifier
Waardenburg Shah syndrome	Finding site	Autonomic nerve structure	true	Inferred relationship	Existential restriction modifier	5
Waardenburg Shah syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Waardenburg Shah syndrome	Finding site	Colon structure	false	Inferred relationship	Existential restriction modifier	6
Waardenburg Shah syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	7
Waardenburg Shah syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	8
Waardenburg Shah syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Existential restriction modifier	6
Waardenburg Shah syndrome	Finding site	Colon structure	false	Inferred relationship	Existential restriction modifier	7
Waardenburg Shah syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	8
Waardenburg Shah syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	8
Waardenburg Shah syndrome	Associated morphology	Congenital hypertrophy	false	Inferred relationship	Existential restriction modifier	7
Waardenburg Shah syndrome	Is a	Inherited autonomic nervous system disorder	true	Inferred relationship	Existential restriction modifier
Waardenburg Shah syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Existential restriction modifier	1
Waardenburg Shah syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Waardenburg Shah syndrome	Finding site	Large intestine part	true	Inferred relationship	Existential restriction modifier	1
Waardenburg Shah syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Waardenburg Shah syndrome	Finding site	Large intestine part	true	Inferred relationship	Existential restriction modifier	2
Waardenburg Shah syndrome	Associated morphology	Congenital hypertrophy	false	Inferred relationship	Existential restriction modifier	1
Waardenburg Shah syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Existential restriction modifier	2
Waardenburg Shah syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier	3
Waardenburg Shah syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	4
Waardenburg Shah syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Waardenburg Shah syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Waardenburg Shah syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier	4
Waardenburg Shah syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	3
Waardenburg Shah syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Waardenburg Shah syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Waardenburg Shah syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	3
Waardenburg Shah syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Waardenburg Shah syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Waardenburg Shah syndrome	Associated morphology	Hypertrophy	true	Inferred relationship	Existential restriction modifier	2
Waardenburg Shah syndrome	Associated morphology	Hypopigmentation	true	Inferred relationship	Existential restriction modifier	4
Waardenburg Shah syndrome	Associated morphology	Dilatation	true	Inferred relationship	Existential restriction modifier	1
Waardenburg Shah syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	5
Waardenburg Shah syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	5
Waardenburg Shah syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	5
Waardenburg Shah syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	6
Waardenburg Shah syndrome	Finding site	Structure of peripheral part of autonomic nervous system	true	Inferred relationship	Existential restriction modifier	7
Waardenburg Shah syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	7
Waardenburg Shah syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	7
Waardenburg Shah syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	6
Waardenburg Shah syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	3
Waardenburg Shah syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier
Waardenburg Shah syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Existential restriction modifier
Waardenburg Shah syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Waardenburg Shah syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Waardenburg Shah syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier

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
3304234014	Waardenburg syndrome co-occurrent with Hirschsprung disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3304235010	Waardenburg Shah syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3304236011	Waardenburg Hirschsprung syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3304237019	Shah Waardenburg syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3304238012	Waardenburg syndrome type 4	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5143439013	Waardenburg Shah syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module