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724839001: Genetic disorder of skin pigmentation (disorder)

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

Descriptions:

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

82 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic disorder of skin pigmentation Is a Disorder of skin pigmentation true Inferred relationship Existential restriction modifier
Genetic disorder of skin pigmentation Is a Hereditary disorder of the integument false Inferred relationship Existential restriction modifier
Genetic disorder of skin pigmentation Associated morphology Pigment alteration true Inferred relationship Existential restriction modifier 1
Genetic disorder of skin pigmentation Finding site Skin structure true Inferred relationship Existential restriction modifier 1
Genetic disorder of skin pigmentation Is a Genetic disease true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Xeroderma pigmentosum Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Ocular albinism-lentigines-deafness syndrome Is a False Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Albinoidism Is a False Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Peutz-Jeghers syndrome Is a False Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Oculocutaneous albinism Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Multiple lentigines syndrome Is a False Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Reticulate acropigmentation of Kitamura Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Neurofibromatosis type 1-like syndrome Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Familial progressive hyperpigmentation Is a False Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Oculocerebral hypopigmentation syndrome of Preus type Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
X-linked reticulate pigmentary disorder with systemic manifestation syndrome Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Piebaldism Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Vici syndrome Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Arterial dissection and lentiginosis syndrome Is a False Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Deaf blind hypopigmentation syndrome Yemenite type Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Osteoporosis and oculocutaneous hypopigmentation syndrome Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Albinism with deafness syndrome Is a False Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Terminal osseous dysplasia and pigmentary defect syndrome Is a False Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Neuroectodermal melanolysosomal disease Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Deafness, vitiligo, achalasia syndrome Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Carney complex Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Familial progressive hyperpigmentation and hypopigmentation of skin Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Waardenburg syndrome Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Hereditary benign acanthosis nigricans Is a False Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Hereditary benign acanthosis nigricans with insulin resistance Is a False Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Familial generalized lentiginosis Is a False Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Centrofacial lentiginosis syndrome Is a False Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Hereditary hypermelanosis Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Thumb deformity, alopecia, pigmentation anomaly syndrome Is a False Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a False Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Ocular albinism with congenital sensorineural deafness Is a False Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Piebald trait with neurologic defects syndrome Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Gastrocutaneous syndrome Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Inherited cutaneous hyperpigmentation Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Phylloid hypomelanosis Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Neurofibromatosis type 6 Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Punctate acrokeratoderma freckle-like pigmentation Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Is a True Genetic disorder of skin pigmentation Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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