724839001: Genetic disorder of skin pigmentation (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\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\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)

\Disease\Genetic disease\Genetic disorder of skin pigmentation (disorder)
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\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
3989371000052116 genetisk sjukdom i hudpigmentering sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genetic disorder of skin pigmentation (disorder)	Is a	Disorder of skin pigmentation (disorder)	true	Inferred relationship	Some
Genetic disorder of skin pigmentation (disorder)	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Genetic disorder of skin pigmentation (disorder)	Associated morphology	Pigment alteration	true	Inferred relationship	Some	1
Genetic disorder of skin pigmentation (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Genetic disorder of skin pigmentation (disorder)	Is a	Genetic disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Xeroderma pigmentosum	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
okulär albinism - lentiginos - dövhetssyndrom	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
albinoidism	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Peutz-Jeghers syndrome	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Oculocutaneous albinism	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Multiple lentigines syndrome	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Reticulate acropigmentation of Kitamura	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Legius syndrome	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Familial progressive hyperpigmentation (disorder)	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Oculocerebral hypopigmentation syndrome of Preus type (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Piebaldism (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Vici syndrome (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Arterial dissection and lentiginosis syndrome (disorder)	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Deaf blind hypopigmentation syndrome Yemenite type (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Terminal osseous dysplasia and pigmentary defect syndrome (disorder)	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Neuroectodermal melanolysosomal disease (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Deafness, vitiligo, achalasia syndrome	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Carney complex (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Familial progressive hyper and hypopigmentation	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Waardenburg syndrome	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Hereditary benign acanthosis nigricans	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Hereditary benign acanthosis nigricans with insulin resistance	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Familial generalised lentiginosis	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Centrofacial lentiginosis syndrome	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Hereditary hypermelanosis (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder)	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder)	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
okulär albinism med kongenital sensorineural dövhet	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Piebald trait with neurologic defects syndrome	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Gastrocutaneous syndrome	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Inherited cutaneous hyperpigmentation	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Phylloid hypomelanosis (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Neurofibromatosis type 6	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Punctate acrokeratoderma freckle-like pigmentation	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Some
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Is a	True	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
3989371000052116	genetisk sjukdom i hudpigmentering	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)