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722059002: Oculocutaneous albinism type 7 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3330419013 Oculocutaneous albinism type 7 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330420019 Oculocutaneous albinism type 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402805011 A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402806012 A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330419013 Oculocutaneous albinism type 7 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3330419013 Oculocutaneous albinism type 7 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330420019 Oculocutaneous albinism type 7 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3330420019 Oculocutaneous albinism type 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330421015 A form of oculocutaneous albinism with characteristics of skin and hair hypopigmentation, nystagmus and iris transillumination. The prevalence is unknown. It has been discovered in several Faroese families and one patient of Lithuanian origin. Patients have a light skin pigmentation that is reported as lighter than their relatives. Caused by mutation in the C10orf11 gene (10q22.3) encoding a 198 amino acid protein. Currently, little is known about the biological function of this gene in humans and its role in this disease pathogenesis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402805011 A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402806012 A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
530991000274117 OCA7 - Okulokutaner Albinismus, Typ 7 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
565811000274117 Okulokutaner Albinismus, Typ 7 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
907721000172111 AOC7 - albinisme oculo-cutané type 7 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
983731000172115 albinisme oculo-cutané type 7 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
907721000172111 AOC7 - albinisme oculo-cutané type 7 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
983731000172115 albinisme oculo-cutané type 7 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
530991000274117 OCA7 - Okulokutaner Albinismus, Typ 7 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
565811000274117 Okulokutaner Albinismus, Typ 7 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3381861001000119 Albinismus, okulokutaner, Typ 7 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Is a Oculocutaneous albinism true Inferred relationship Existential restriction modifier (core metadata concept)
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Associated morphology Decreased melanin pigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 4
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Associated morphology Congenital hypopigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 6
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Associated morphology Decreased melanin pigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 5
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Associated morphology Congenital hypopigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 4
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Finding site Eye structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Finding site Eye structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Associated morphology Congenital hypopigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 1
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Finding site Eye structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Associated morphology Hypopigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 1
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Associated morphology Hypopigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 2
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Associated morphology Decreased melanin pigmentation true Inferred relationship Existential restriction modifier (core metadata concept) 2
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Associated morphology Decreased melanin pigmentation true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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