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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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Oculocutaneous albinism type 7 (disorder) Is a Oculocutaneous albinism true Inferred relationship Some
Oculocutaneous albinism type 7 (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Oculocutaneous albinism type 7 (disorder) Associated morphology Decreased melanin pigmentation false Inferred relationship Some 4
Oculocutaneous albinism type 7 (disorder) Occurrence Congenital false Inferred relationship Some 5
Oculocutaneous albinism type 7 (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Some 6
Oculocutaneous albinism type 7 (disorder) Finding site Skin structure false Inferred relationship Some 6
Oculocutaneous albinism type 7 (disorder) Associated morphology Decreased melanin pigmentation false Inferred relationship Some 5
Oculocutaneous albinism type 7 (disorder) Occurrence Congenital false Inferred relationship Some 6
Oculocutaneous albinism type 7 (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Some 4
Oculocutaneous albinism type 7 (disorder) Finding site Skin structure false Inferred relationship Some 4
Oculocutaneous albinism type 7 (disorder) Finding site Eye structure false Inferred relationship Some 4
Oculocutaneous albinism type 7 (disorder) Occurrence Congenital true Inferred relationship Some 2
Oculocutaneous albinism type 7 (disorder) Finding site Eye structure true Inferred relationship Some 2
Oculocutaneous albinism type 7 (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Some 1
Oculocutaneous albinism type 7 (disorder) Finding site Eye structure false Inferred relationship Some 1
Oculocutaneous albinism type 7 (disorder) Occurrence Congenital true Inferred relationship Some 1
Oculocutaneous albinism type 7 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oculocutaneous albinism type 7 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Oculocutaneous albinism type 7 (disorder) Finding site Skin structure true Inferred relationship Some 1
Oculocutaneous albinism type 7 (disorder) Finding site Skin structure false Inferred relationship Some 2
Oculocutaneous albinism type 7 (disorder) Associated morphology Hypopigmentation false Inferred relationship Some 1
Oculocutaneous albinism type 7 (disorder) Associated morphology Hypopigmentation false Inferred relationship Some 2
Oculocutaneous albinism type 7 (disorder) Associated morphology Decreased melanin pigmentation true Inferred relationship Some 2
Oculocutaneous albinism type 7 (disorder) Associated morphology Decreased melanin pigmentation true Inferred relationship Some 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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