773984007: syndrome de piébaldisme-anomalies neurologiques (trouble)

• 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)\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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)\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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)\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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)\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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)\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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)\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Piebald trait with neurologic defects syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Piebald trait with neurologic defects syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Piebald trait with neurologic defects syndrome
• \Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Piebald trait with neurologic defects syndrome
• \Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
• \Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Piebald trait with neurologic defects syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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)\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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)\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Piebald trait with neurologic defects syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Piebald trait with neurologic defects syndrome
• \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\Piebald trait with neurologic defects syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3727467015	Piebald trait with neurologic defects syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3727468013	Piebald trait with neurologic defects syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3727469017	Telfer Sugar Jaeger syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
772111000241110	syndrome de piébaldisme-anomalies neurologiques (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
875261000172115	syndrome de piébaldisme-anomalies neurologiques	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
894221000172116	syndrome de Telfer-Sugar-Jaeger	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3727140016	A rare genetic pigmentation anomaly of the skin syndrome with characteristics of ventral as well as dorsal leukoderma of the trunk and a congenital white forelock in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, unilateral or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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