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718122005: piébaldisme (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)\Piebaldism (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\Piebaldism (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\Piebaldism (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\Piebaldism (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)\Piebaldism (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\Piebaldism (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\Piebaldism (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Piebaldism (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Piebaldism (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Piebaldism (disorder)
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Piebaldism (disorder)
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Piebaldism (disorder)
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Piebaldism (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Piebaldism (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Piebaldism (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\Piebaldism (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)\Piebaldism (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\Piebaldism (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\Piebaldism (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\Piebaldism (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\Piebaldism (disorder)
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Piebaldism (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\Piebaldism (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\Piebaldism (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\Piebaldism (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)\Piebaldism (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\Piebaldism (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\Piebaldism (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Piebaldism (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\Piebaldism (disorder)

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

3311230010 Piebaldism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3311231014 Piebaldism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

752011000241112 piébaldisme (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

982121000172114 piébaldisme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3311232019 Piebaldism is a rare congenital pigmentation skin disorder with characteristic of the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes. 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
Piebaldism (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Piebaldism (disorder)	morphologie associée (attribut)	Hypopigmentation	true	Inferred relationship	Some	1
Piebaldism (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Piebaldism (disorder)	est un(e) (attribut)	Congenital deficiency of pigment of skin	true	Inferred relationship	Some
Piebaldism (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Piebaldism (disorder)	est un(e) (attribut)	Hereditary disorder of the integument	false	Inferred relationship	Some
Piebaldism (disorder)	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
Piebaldism (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Piebaldism (disorder)	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	1
Piebaldism (disorder)	est un(e) (attribut)	Genetic disorder of skin pigmentation (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3311230010	Piebaldism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3311231014	Piebaldism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
752011000241112	piébaldisme (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
982121000172114	piébaldisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3311232019	Piebaldism is a rare congenital pigmentation skin disorder with characteristic of the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core