724839001: Genetic disorder of skin pigmentation (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)
\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)

\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)
\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)
\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)

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (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)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (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)
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (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)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3444907016 Genetic disorder of skin pigmentation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3444908014 Genetic disorder of skin pigmentation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genetic disorder of skin pigmentation (disorder)	est un(e) (attribut)	Disorder of skin pigmentation (disorder)	true	Inferred relationship	Some
Genetic disorder of skin pigmentation (disorder)	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
Genetic disorder of skin pigmentation (disorder)	morphologie associée (attribut)	Pigment alteration	true	Inferred relationship	Some	1
Genetic disorder of skin pigmentation (disorder)	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ocular albinism with congenital sensorineural deafness	est un(e) (attribut)	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Piebald trait with neurologic defects syndrome	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Gastrocutaneous syndrome	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder)	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Inherited cutaneous hyperpigmentation	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Phylloid hypomelanosis (disorder)	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder)	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Neurofibromatosis type 6	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder)	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
xeroderma pigmentosum	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Ocular albinism-lentigines-deafness syndrome (disorder)	est un(e) (attribut)	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
albinoïdisme	est un(e) (attribut)	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
lentiginose périorificielle avec polypose viscérale	est un(e) (attribut)	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Oculocutaneous albinism	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Multiple lentigines syndrome	est un(e) (attribut)	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Reticulate acropigmentation of Kitamura	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Legius syndrome	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Familial progressive hyperpigmentation (disorder)	est un(e) (attribut)	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Oculocerebral hypopigmentation syndrome of Preus type (disorder)	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder)	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Piebaldism (disorder)	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Vici syndrome (disorder)	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Arterial dissection and lentiginosis syndrome (disorder)	est un(e) (attribut)	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
surdité-cécité-hypopigmentation	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
syndrome de dysplasie osseuse terminale-défauts de pigmentation	est un(e) (attribut)	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Neuroectodermal melanolysosomal disease (disorder)	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Deafness, vitiligo, achalasia syndrome	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Carney complex (disorder)	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Familial progressive hyper and hypopigmentation	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
syndrome de Waardenburg (trouble)	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Hereditary benign acanthosis nigricans	est un(e) (attribut)	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
acanthosis nigricans héréditaire bénin avec insulinorésistance	est un(e) (attribut)	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Familial generalised lentiginosis	est un(e) (attribut)	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Centrofacial lentiginosis syndrome	est un(e) (attribut)	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Hereditary hypermelanosis (disorder)	est un(e) (attribut)	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation	est un(e) (attribut)	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie	est un(e) (attribut)	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3444907016	Genetic disorder of skin pigmentation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3444908014	Genetic disorder of skin pigmentation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core