FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

722057000: Oculocutaneous albinism type 5 (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
3330413014 Oculocutaneous albinism type 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330414015 Oculocutaneous albinism type 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402801019 A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402802014 A form of oculocutaneous albinism characterised by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected. 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 5 (disorder) Is a Oculocutaneous albinism true Inferred relationship Some
Oculocutaneous albinism type 5 (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Oculocutaneous albinism type 5 (disorder) Associated morphology Decreased melanin pigmentation false Inferred relationship Some 4
Oculocutaneous albinism type 5 (disorder) Occurrence Congenital false Inferred relationship Some 5
Oculocutaneous albinism type 5 (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Some 6
Oculocutaneous albinism type 5 (disorder) Finding site Skin structure false Inferred relationship Some 6
Oculocutaneous albinism type 5 (disorder) Associated morphology Decreased melanin pigmentation false Inferred relationship Some 5
Oculocutaneous albinism type 5 (disorder) Occurrence Congenital false Inferred relationship Some 6
Oculocutaneous albinism type 5 (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Some 4
Oculocutaneous albinism type 5 (disorder) Finding site Skin structure false Inferred relationship Some 4
Oculocutaneous albinism type 5 (disorder) Finding site Eye structure false Inferred relationship Some 4
Oculocutaneous albinism type 5 (disorder) Occurrence Congenital true Inferred relationship Some 2
Oculocutaneous albinism type 5 (disorder) Finding site Eye structure true Inferred relationship Some 2
Oculocutaneous albinism type 5 (disorder) Occurrence Congenital true Inferred relationship Some 1
Oculocutaneous albinism type 5 (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Some 1
Oculocutaneous albinism type 5 (disorder) Finding site Eye structure false Inferred relationship Some 1
Oculocutaneous albinism type 5 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Oculocutaneous albinism type 5 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oculocutaneous albinism type 5 (disorder) Finding site Skin structure true Inferred relationship Some 1
Oculocutaneous albinism type 5 (disorder) Finding site Skin structure false Inferred relationship Some 2
Oculocutaneous albinism type 5 (disorder) Associated morphology Hypopigmentation false Inferred relationship Some 1
Oculocutaneous albinism type 5 (disorder) Associated morphology Hypopigmentation false Inferred relationship Some 2
Oculocutaneous albinism type 5 (disorder) Associated morphology Decreased melanin pigmentation true Inferred relationship Some 2
Oculocutaneous albinism type 5 (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

Back to Start