763368004: Familial progressive hyperpigmentation and hypopigmentation 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)\Genetic disorder of skin pigmentation (disorder)\Familial progressive hyper and hypopigmentation
\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\Familial progressive hyper and hypopigmentation
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Familial progressive hyper and hypopigmentation
\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)\Familial progressive hyper and hypopigmentation
\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\Familial progressive hyper and hypopigmentation

\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\Familial progressive hyper and hypopigmentation
\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)\Familial progressive hyper and hypopigmentation
\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\Familial progressive hyper and hypopigmentation
\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)\Familial progressive hyper and hypopigmentation
\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\Familial progressive hyper and hypopigmentation
\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\Familial progressive hyper and hypopigmentation
\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)\Familial progressive hyper and hypopigmentation
\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\Familial progressive hyper and hypopigmentation

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Familial progressive hyper and hypopigmentation
\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\Familial progressive hyper and hypopigmentation
\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)\Familial progressive hyper and hypopigmentation
\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\Familial progressive hyper and hypopigmentation
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Familial progressive hyper and hypopigmentation
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Familial progressive hyper and hypopigmentation
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Familial progressive hyper and hypopigmentation
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Familial progressive hyper and hypopigmentation

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3640240015 Familial progressive hyperpigmentation and hypopigmentation of skin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3640241016 Familial progressive hyper and hypopigmentation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3640242011 Familial progressive hyperpigmentation and hypopigmentation of skin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3657277015 A rare genetic skin pigmentation anomaly disorder with characteristics of progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple cafe au lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dyspigmentation pattern can range from well isolated cafe au lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. There is evidence this disease is caused by heterozygous mutation in the KIT ligand gene (KITLG) on chromosome 12q22. 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
Familial progressive hyper and hypopigmentation	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Familial progressive hyper and hypopigmentation	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Familial progressive hyper and hypopigmentation	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial progressive hyper and hypopigmentation	est un(e) (attribut)	anomalies congénitales de pigmentation de la peau	true	Inferred relationship	Some
Familial progressive hyper and hypopigmentation	est un(e) (attribut)	Genetic disorder of skin pigmentation (disorder)	true	Inferred relationship	Some
Familial progressive hyper and hypopigmentation	morphologie associée (attribut)	Pigment alteration	false	Inferred relationship	Some	2
Familial progressive hyper and hypopigmentation	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Familial progressive hyper and hypopigmentation	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Familial progressive hyper and hypopigmentation	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	1
Familial progressive hyper and hypopigmentation	morphologie associée (attribut)	Pigment alteration	true	Inferred relationship	Some	1
Familial progressive hyper and hypopigmentation	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Familial progressive hyper and hypopigmentation	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3640240015	Familial progressive hyperpigmentation and hypopigmentation of skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3640241016	Familial progressive hyper and hypopigmentation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3640242011	Familial progressive hyperpigmentation and hypopigmentation of skin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3657277015	A rare genetic skin pigmentation anomaly disorder with characteristics of progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple cafe au lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dyspigmentation pattern can range from well isolated cafe au lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. There is evidence this disease is caused by heterozygous mutation in the KIT ligand gene (KITLG) on chromosome 12q22.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core