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

737579002: Congenital coloboma of macula lutea (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3528385011 Coloboma of macula en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3528386012 Congenital coloboma of macula lutea en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3528387015 Congenital coloboma of macula lutea (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403900012 Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403901011 Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterised by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3528385011 Coloboma of macula en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3528386012 Congenital coloboma of macula lutea en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3528387015 Congenital coloboma of macula lutea (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3531690015 A rare non-syndromic developmental defect of the eye. The disease has characteristics of well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403900012 Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403901011 Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterised by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
540821000274113 Kongenitales Kolobom der Makula de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
571421000274119 Kongenitales Makulakolobom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3390981001000112 Makulakolobom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5936851000241111 colobome congénital de la macula fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5936861000241114 colobome maculaire congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5936871000241118 colobome congénital de la macula lutea fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5936851000241111 colobome congénital de la macula fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5936861000241114 colobome maculaire congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5936871000241118 colobome congénital de la macula lutea fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
540821000274113 Kongenitales Kolobom der Makula de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
571421000274119 Kongenitales Makulakolobom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3390981001000112 Makulakolobom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital coloboma of macula lutea (disorder) Is a Congenital anomaly of macula true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital coloboma of macula lutea (disorder) Is a Congenital ocular coloboma false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital coloboma of macula lutea (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital coloboma of macula lutea (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital coloboma of macula lutea (disorder) Finding site Macula lutea structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital coloboma of macula lutea (disorder) Is a difetto retinico false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital coloboma of macula lutea (disorder) Is a Kolobom der Retina true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital coloboma of macula lutea (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital coloboma of macula lutea (disorder) Is a Fundus coloboma (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Coloboma of macula with brachydactyly type B syndrome (disorder) Is a True Congenital coloboma of macula lutea (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. Is a True Congenital coloboma of macula lutea (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Coloboma of bilateral maculae (disorder) Is a True Congenital coloboma of macula lutea (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

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

Back to Start