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765146000: Oculocutaneous albinism type 1 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3657192012 Oculocutaneous albinism type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3657193019 Oculocutaneous albinism type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5314319011 TYR-gene related oculocutaneous albinism type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404496010 A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigmentation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404497018 A form of oculocutaneous albinism (OCA) characterised by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localised pigmentation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). 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 1 (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Some 2
Oculocutaneous albinism type 1 (disorder) Occurrence Congenital true Inferred relationship Some 2
Oculocutaneous albinism type 1 (disorder) Finding site Skin structure true Inferred relationship Some 1
Oculocutaneous albinism type 1 (disorder) Associated morphology Decreased melanin pigmentation false Inferred relationship Some 3
Oculocutaneous albinism type 1 (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Some 1
Oculocutaneous albinism type 1 (disorder) Finding site Eye structure true Inferred relationship Some 2
Oculocutaneous albinism type 1 (disorder) Occurrence Congenital false Inferred relationship Some 3
Oculocutaneous albinism type 1 (disorder) Occurrence Congenital true Inferred relationship Some 1
Oculocutaneous albinism type 1 (disorder) Is a Oculocutaneous albinism true Inferred relationship Some
Oculocutaneous albinism type 1 (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Oculocutaneous albinism type 1 (disorder) Finding site Eye structure false Inferred relationship Some 1
Oculocutaneous albinism type 1 (disorder) Finding site Skin structure false Inferred relationship Some 2
Oculocutaneous albinism type 1 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oculocutaneous albinism type 1 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Oculocutaneous albinism type 1 (disorder) Associated morphology Hypopigmentation false Inferred relationship Some 1
Oculocutaneous albinism type 1 (disorder) Associated morphology Hypopigmentation false Inferred relationship Some 2
Oculocutaneous albinism type 1 (disorder) Associated morphology Decreased melanin pigmentation true Inferred relationship Some 2
Oculocutaneous albinism type 1 (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)

GB English

US English

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