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276436007: Hereditary macular dystrophy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
412569012 Hereditary macular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
669351013 Hereditary macular dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2791808017 Macular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5123461000241117 dystrophie maculaire héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
623171000274116 Makuladystrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
623181000274119 Hereditäre Makuladystrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


16 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary macular dystrophy Is a Macular dystrophy false Inferred relationship Some
Hereditary macular dystrophy Finding site Macula lutea structure false Inferred relationship Some
Hereditary macular dystrophy Is a Disorder of macula of retina (disorder) false Inferred relationship Some
Hereditary macular dystrophy Is a Hereditary retinal dystrophy true Inferred relationship Some
Hereditary macular dystrophy Associated morphology Dystrophy true Inferred relationship Some 1
Hereditary macular dystrophy Finding site Retinal structure false Inferred relationship Some 1
Hereditary macular dystrophy Finding site Macula lutea structure true Inferred relationship Some 1
Hereditary macular dystrophy Is a Degenerative disorder of macula (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, with characteristics of retinal atrophy and retinal detachment leading to loss of central vision, then peripheral vision, and eventually blindness. Is a True Hereditary macular dystrophy Inferred relationship Some
Dominant drusen Is a False Hereditary macular dystrophy Inferred relationship Some
Bull's eye macular dystrophy Is a True Hereditary macular dystrophy Inferred relationship Some
Pattern dystrophy of macula Is a False Hereditary macular dystrophy Inferred relationship Some
dystrophie vitelliforme Is a False Hereditary macular dystrophy Inferred relationship Some
Other Bruch's membrane dystrophy Is a False Hereditary macular dystrophy Inferred relationship Some
North Carolina macular dystrophy Is a True Hereditary macular dystrophy Inferred relationship Some
Fundus flavimaculatus Is a True Hereditary macular dystrophy Inferred relationship Some
Stargardt's disease Is a True Hereditary macular dystrophy Inferred relationship Some
Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull's eye configuration. Is a True Hereditary macular dystrophy Inferred relationship Some
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. Is a True Hereditary macular dystrophy Inferred relationship Some
A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy. Is a True Hereditary macular dystrophy Inferred relationship Some
Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive bull eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. Is a True Hereditary macular dystrophy Inferred relationship Some
Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms. Is a True Hereditary macular dystrophy Inferred relationship Some
A rare, genetic retinal disease characterized by the characteristic dried-out soil fundus pattern due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated, and Bruch's membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularization or atrophic fibrous macular scarring that can lead to reduced visual acuity over time. Is a False Hereditary macular dystrophy Inferred relationship Some

This concept is not in any reference sets

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