1010638004: Waardenburg syndrome type 3 (disorder)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)

\constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\Congenital hearing disorder\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)

\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\...

\Congenital hearing disorder\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)

\perte auditive (trouble)\Hearing loss associated with syndrome\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\Ear, nose and throat disorder\affection de l'oreille\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\affection de la tête\affection de l'oreille\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\Congenital disease\Congenital hearing disorder\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\syndrome de Waardenburg (trouble)\Waardenburg syndrome type 3 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4213391010 Waardenburg syndrome type 3 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4213392015 Waardenburg syndrome type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Waardenburg syndrome type 3 (disorder)	est un(e) (attribut)	syndrome de Waardenburg (trouble)	true	Inferred relationship	Some
Waardenburg syndrome type 3 (disorder)	morphologie associée (attribut)	Hypopigmentation	true	Inferred relationship	Some	1
Waardenburg syndrome type 3 (disorder)	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	1
Waardenburg syndrome type 3 (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Waardenburg syndrome type 3 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Waardenburg syndrome type 3 (disorder)	localisation d'une constatation (attribut)	oreille	true	Inferred relationship	Some	2
Waardenburg syndrome type 3 (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Waardenburg syndrome type 3 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Waardenburg syndrome type 3 (disorder)	interprète (attribut)	Hearing, function (observable entity)	true	Inferred relationship	Some	3

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
4213391010	Waardenburg syndrome type 3 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4213392015	Waardenburg syndrome type 3	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core