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

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation\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\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\Genetic disorder of skin pigmentation (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)

\Disease\Genetic disease\Genetic disorder of skin pigmentation (disorder)
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Disorder of skin pigmentation\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\Genetic disorder of skin pigmentation (disorder)
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation\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\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:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Xeroderma pigmentosum (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Ocular albinism-lentigines-deafness syndrome	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
albinoïdisme	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Peutz-Jeghers syndrome	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculocutaneous albinism	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Multiple lentigines syndrome	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Reticulate acropigmentation of Kitamura (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurofibromatosis type 1-like syndrome (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial progressive hyperpigmentation	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculocerebral hypopigmentation syndrome of Preus type (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Vici syndrome (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Deaf blind hypopigmentation syndrome Yemenite type	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Terminal osseous dysplasia and pigmentary defect syndrome (disorder)	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Neuroectodermal melanolysosomal disease	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Carney complex (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial progressive hyper and hypopigmentation	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early greying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32).	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary benign acanthosis nigricans (disorder)	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary benign acanthosis nigricans with insulin resistance	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Centrofacial lentiginosis syndrome	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary hypermelanosis (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Thumb deformity, alopecia, pigmentation anomaly syndrome	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit	Is a	False	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Piebald trait with neurologic defects syndrome (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Gastrocutaneous syndrome	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited cutaneous hyperpigmentation	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Phylloid hypomelanosis	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Punctate acrokeratoderma freckle-like pigmentation	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Mosaic Legius syndrome (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Becker nevus syndrome (disorder)	Is a	True	Genetic disorder of skin pigmentation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start

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
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
6316091000241112	trouble de la pigmentation cutanée d'origine génétique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6316091000241112	trouble de la pigmentation cutanée d'origine génétique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module