763368004: Familial progressive hyperpigmentation and hypopigmentation of skin (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Familial progressive hyperpigmentation and hypopigmentation of skin
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Familial progressive hyperpigmentation and hypopigmentation of skin
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Familial progressive hyperpigmentation and hypopigmentation of skin
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Familial progressive hyperpigmentation and hypopigmentation of skin
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Familial progressive hyperpigmentation and hypopigmentation of skin
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Familial progressive hyperpigmentation and hypopigmentation of skin
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Familial progressive hyperpigmentation and hypopigmentation of skin
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Familial progressive hyperpigmentation and hypopigmentation of skin
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin

\Disease\Genetic disease\Genetic disorder of skin pigmentation\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Developmental disorder\Developmental hereditary disorder\Familial progressive hyperpigmentation and hypopigmentation of skin
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Familial progressive hyperpigmentation and hypopigmentation of skin

Status: current, Primitive. 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 Active Case insensitive SNOMED CT core

3640241016 Familial progressive hyper and hypopigmentation en Synonym Active Case insensitive SNOMED CT core

3640242011 Familial progressive hyperpigmentation and hypopigmentation of skin (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial progressive hyperpigmentation and hypopigmentation of skin	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Familial progressive hyperpigmentation and hypopigmentation of skin	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Familial progressive hyperpigmentation and hypopigmentation of skin	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Familial progressive hyperpigmentation and hypopigmentation of skin	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial progressive hyperpigmentation and hypopigmentation of skin	Is a	Congenital pigmentary skin anomalies	true	Inferred relationship	Some
Familial progressive hyperpigmentation and hypopigmentation of skin	Is a	Genetic disorder of skin pigmentation	true	Inferred relationship	Some
Familial progressive hyperpigmentation and hypopigmentation of skin	Associated morphology	Pigment alteration	false	Inferred relationship	Some	2
Familial progressive hyperpigmentation and hypopigmentation of skin	Occurrence	Congenital	false	Inferred relationship	Some	2
Familial progressive hyperpigmentation and hypopigmentation of skin	Finding site	Skin structure	false	Inferred relationship	Some	2
Familial progressive hyperpigmentation and hypopigmentation of skin	Finding site	Skin structure	true	Inferred relationship	Some	1
Familial progressive hyperpigmentation and hypopigmentation of skin	Associated morphology	Pigment alteration	true	Inferred relationship	Some	1
Familial progressive hyperpigmentation and hypopigmentation of skin	Occurrence	Congenital	true	Inferred relationship	Some	1
Familial progressive hyperpigmentation and hypopigmentation of skin	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3640240015	Familial progressive hyperpigmentation and hypopigmentation of skin	en	Synonym	Active	Case insensitive	SNOMED CT core
3640241016	Familial progressive hyper and hypopigmentation	en	Synonym	Active	Case insensitive	SNOMED CT core
3640242011	Familial progressive hyperpigmentation and hypopigmentation of skin (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core