FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

722058005: Oculocutaneous albinism type 6 (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
3330416018 Oculocutaneous albinism type 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330417010 Oculocutaneous albinism type 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330418017 A type of oculocutaneous albinism recently discovered in one Chinese family, with characteristics of light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. Caused by mutations in the SLC24A5 gene (15q21.1). 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 6 (disorder) Is a Oculocutaneous albinism true Inferred relationship Some
Oculocutaneous albinism type 6 (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Oculocutaneous albinism type 6 (disorder) Associated morphology Decreased melanin pigmentation false Inferred relationship Some 4
Oculocutaneous albinism type 6 (disorder) Occurrence Congenital false Inferred relationship Some 5
Oculocutaneous albinism type 6 (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Some 6
Oculocutaneous albinism type 6 (disorder) Finding site Skin structure false Inferred relationship Some 6
Oculocutaneous albinism type 6 (disorder) Associated morphology Decreased melanin pigmentation false Inferred relationship Some 5
Oculocutaneous albinism type 6 (disorder) Occurrence Congenital false Inferred relationship Some 6
Oculocutaneous albinism type 6 (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Some 4
Oculocutaneous albinism type 6 (disorder) Finding site Skin structure false Inferred relationship Some 4
Oculocutaneous albinism type 6 (disorder) Finding site Eye structure false Inferred relationship Some 4
Oculocutaneous albinism type 6 (disorder) Finding site Eye structure true Inferred relationship Some 2
Oculocutaneous albinism type 6 (disorder) Occurrence Congenital true Inferred relationship Some 2
Oculocutaneous albinism type 6 (disorder) Finding site Eye structure false Inferred relationship Some 1
Oculocutaneous albinism type 6 (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Some 1
Oculocutaneous albinism type 6 (disorder) Occurrence Congenital true Inferred relationship Some 1
Oculocutaneous albinism type 6 (disorder) Finding site Skin structure true Inferred relationship Some 1
Oculocutaneous albinism type 6 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oculocutaneous albinism type 6 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Oculocutaneous albinism type 6 (disorder) Finding site Skin structure false Inferred relationship Some 2
Oculocutaneous albinism type 6 (disorder) Associated morphology Hypopigmentation false Inferred relationship Some 1
Oculocutaneous albinism type 6 (disorder) Associated morphology Hypopigmentation false Inferred relationship Some 2
Oculocutaneous albinism type 6 (disorder) Associated morphology Decreased melanin pigmentation true Inferred relationship Some 2
Oculocutaneous albinism type 6 (disorder) Associated morphology Decreased melanin pigmentation true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start