1953005: Congenital deficiency of pigment of skin (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)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin
\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
\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
\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
\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

\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
\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
\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
\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
\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
\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
\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
\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

\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
\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
\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
\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
\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
\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
\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

\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin
\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
\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
\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
\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
\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
\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
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin
\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
\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
\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
\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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4374015 Congenital deficiency of pigment of skin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

747753014 Congenital deficiency of pigment of skin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital deficiency of pigment of skin	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital deficiency of pigment of skin	morphologie associée (attribut)	Hypopigmentation	true	Inferred relationship	Some	1
Congenital deficiency of pigment of skin	est un(e) (attribut)	Congenital pigmentary anomaly of skin (disorder)	false	Inferred relationship	Some
Congenital deficiency of pigment of skin	est un(e) (attribut)	Congenital anomaly of skin	false	Inferred relationship	Some
Congenital deficiency of pigment of skin	est un(e) (attribut)	Skin lesion	false	Inferred relationship	Some
Congenital deficiency of pigment of skin	est un(e) (attribut)	Congenital anomaly of skin	false	Inferred relationship	Some
Congenital deficiency of pigment of skin	est un(e) (attribut)	hypopigmentation cutanée	true	Inferred relationship	Some
Congenital deficiency of pigment of skin	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Congenital deficiency of pigment of skin	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
Congenital deficiency of pigment of skin	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Congenital deficiency of pigment of skin	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	2
Congenital deficiency of pigment of skin	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Congenital deficiency of pigment of skin	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Congenital deficiency of pigment of skin	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	1
Congenital deficiency of pigment of skin	est un(e) (attribut)	anomalies congénitales de pigmentation de la peau	true	Inferred relationship	Some
Congenital deficiency of pigment of skin	morphologie associée (attribut)	Congenital deficiency	false	Inferred relationship	Some
Congenital deficiency of pigment of skin	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
Congenital deficiency of pigment of skin	survenue (attribut)	congénital	false	Inferred relationship	Some
Congenital deficiency of pigment of skin	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Piebald trait with neurologic defects syndrome	est un(e) (attribut)	True	Congenital deficiency of pigment of skin	Inferred relationship	Some
Phylloid hypomelanosis (disorder)	est un(e) (attribut)	True	Congenital deficiency of pigment of skin	Inferred relationship	Some
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	est un(e) (attribut)	True	Congenital deficiency of pigment of skin	Inferred relationship	Some
Albinism	est un(e) (attribut)	False	Congenital deficiency of pigment of skin	Inferred relationship	Some
Congenital oculocutaneous hypopigmentation	est un(e) (attribut)	True	Congenital deficiency of pigment of skin	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	est un(e) (attribut)	False	Congenital deficiency of pigment of skin	Inferred relationship	Some
albinoïdisme	est un(e) (attribut)	False	Congenital deficiency of pigment of skin	Inferred relationship	Some
Oculocutaneous albinism	est un(e) (attribut)	False	Congenital deficiency of pigment of skin	Inferred relationship	Some
Klein-Waardenberg's syndrome	est un(e) (attribut)	False	Congenital deficiency of pigment of skin	Inferred relationship	Some
Oculocerebral hypopigmentation syndrome of Preus type (disorder)	est un(e) (attribut)	True	Congenital deficiency of pigment of skin	Inferred relationship	Some
Piebaldism (disorder)	est un(e) (attribut)	True	Congenital deficiency of pigment of skin	Inferred relationship	Some
surdité-cécité-hypopigmentation	est un(e) (attribut)	True	Congenital deficiency of pigment of skin	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	est un(e) (attribut)	True	Congenital deficiency of pigment of skin	Inferred relationship	Some
Deafness, vitiligo, achalasia syndrome	est un(e) (attribut)	True	Congenital deficiency of pigment of skin	Inferred relationship	Some
syndrome de Waardenburg (trouble)	est un(e) (attribut)	True	Congenital deficiency of pigment of skin	Inferred relationship	Some

Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
4374015	Congenital deficiency of pigment of skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
747753014	Congenital deficiency of pigment of skin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core