90036004: Vitelliform dystrophy (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

149249010 Vitelliform dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

833056010 Vitelliform dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1235526010 Vitelliform macular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4803771000005118 vitelliform maculadystrofi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
vitelliform maculadystrofi	Is a	Hereditary macular dystrophy	false	Inferred relationship	Some
vitelliform maculadystrofi	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
vitelliform maculadystrofi	Finding site	Macula lutea structure	false	Inferred relationship	Some
vitelliform maculadystrofi	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
vitelliform maculadystrofi	Finding site	Retinal structure	false	Inferred relationship	Some	1
vitelliform maculadystrofi	Finding site	Macula lutea structure	false	Inferred relationship	Some	1
vitelliform maculadystrofi	Due to	Macular vitelliform deposits	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern.	Is a	False	vitelliform maculadystrofi	Inferred relationship	Some
Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.	Is a	False	vitelliform maculadystrofi	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)