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47434006: Waardenburg 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
\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
\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
\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
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg 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
\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

\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Waardenburg syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Waardenburg syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg syndrome
\Ear and auditory finding\Hearing finding\Decreased hearing\Waardenburg syndrome

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

\Disease\Genetic disease\Genetic disorder of skin pigmentation\Waardenburg syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Waardenburg syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Waardenburg syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg syndrome
\Disease\Disorder of body system\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
\Disease\Disorder of body system\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
\Disease\Disorder of body system\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
\Disease\Disorder of body system\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
\Disease\Disorder of body system\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
\Disease\Disorder of body system\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
\Disease\Disorder of body system\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
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Waardenburg syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome
\Disease\Congenital disease\Congenital hearing disorder\Waardenburg syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg syndrome
\Disease\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
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Waardenburg syndrome
\Disease\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
\Disease\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
\Disease\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
\Disease\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
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Waardenburg syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

79083016 Waardenburg's syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

2841707016 Waardenburg syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

5143440010 Waardenburg 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 syndrome	Is a	Multisystem disorder W-X	false	Inferred relationship	Existential restriction modifier
Waardenburg syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	false	Inferred relationship	Existential restriction modifier
Waardenburg syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Waardenburg syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Waardenburg syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Waardenburg syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Waardenburg syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	1
Waardenburg syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier	2
Waardenburg syndrome	Is a	Congenital deficiency of pigment of skin	true	Inferred relationship	Existential restriction modifier
Waardenburg syndrome	Is a	Genetic disorder of skin pigmentation	true	Inferred relationship	Existential restriction modifier
Waardenburg syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Waardenburg syndrome	Is a	Auditory system hereditary disorder	false	Inferred relationship	Existential restriction modifier
Waardenburg syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Waardenburg syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	1
Waardenburg syndrome	Is a	Autosomal hereditary disorder	false	Inferred relationship	Existential restriction modifier
Waardenburg syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Waardenburg syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Waardenburg syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Waardenburg syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	2
Waardenburg syndrome	Associated morphology	Hypopigmentation	true	Inferred relationship	Existential restriction modifier	1
Waardenburg syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	3
Waardenburg syndrome	Is a	Disorder of ear	false	Inferred relationship	Existential restriction modifier
Waardenburg syndrome	Is a	Congenital hearing disorder	true	Inferred relationship	Existential restriction modifier
Waardenburg syndrome	Is a	Developmental hereditary disorder	false	Inferred relationship	Existential restriction modifier
Waardenburg syndrome	Is a	Decreased hearing	true	Inferred relationship	Existential restriction modifier
Waardenburg syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	3
Waardenburg syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Waardenburg Shah syndrome	Is a	True	Waardenburg syndrome	Inferred relationship	Existential restriction modifier
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease	Is a	True	Waardenburg syndrome	Inferred relationship	Existential restriction modifier
Waardenburg syndrome type 3	Is a	False	Waardenburg syndrome	Inferred relationship	Existential restriction modifier
Waardenburg syndrome type 1	Is a	True	Waardenburg syndrome	Inferred relationship	Existential restriction modifier
Waardenburg syndrome type 2	Is a	True	Waardenburg syndrome	Inferred relationship	Existential restriction modifier
Waardenburg syndrome type 3	Is a	True	Waardenburg syndrome	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
79083016	Waardenburg's syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2841707016	Waardenburg syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5143440010	Waardenburg syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module