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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
412569012 Hereditary macular dystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
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
5123461000241117 dystrophie maculaire héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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


17 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 Existential restriction modifier (core metadata concept)
Hereditary macular dystrophy Finding site Macula lutea structure false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary macular dystrophy Is a Macular disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary macular dystrophy Is a Hereditary retinal dystrophy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary macular dystrophy Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary macular dystrophy Finding site Retinal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary macular dystrophy Finding site Macula lutea structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary macular dystrophy Is a Degenerative disorder of macula (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

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 Existential restriction modifier (core metadata concept)
Dominant drusen Is a False Hereditary macular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Bull's eye macular dystrophy Is a True Hereditary macular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Pattern dystrophy of macula Is a False Hereditary macular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
dystrophie vitelliforme Is a False Hereditary macular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Other Bruch's membrane dystrophy Is a False Hereditary macular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
North Carolina macular dystrophy Is a True Hereditary macular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Fundus flavimaculatus Is a True Hereditary macular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Stargardt's disease Is a True Hereditary macular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Benign concentric annular macular dystrophy (disorder) Is a True Hereditary macular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a True Hereditary macular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
5-amino-4-imidazole carboxamide ribosiduria (disorder) Is a True Hereditary macular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Occult macular dystrophy Is a True Hereditary macular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Martinique crinkled retinal pigment epitheliopathy Is a True Hereditary macular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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