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1381540004: Prolyl 3-hydroxylase 2 gene related high myopia, cataract, vitreoretinal degeneration (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5503884011 Prolyl 3-hydroxylase 2 gene related high myopia, cataract, vitreoretinal degeneration (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5503886013 Prolyl 3-hydroxylase 2 gene related-high myopia, cataract, vitreoretinal degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5503887016 P3H2 gene related high myopia, cataract, vitreoretinal degeneration en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5503888014 Prolyl 3-hydroxylase 2 gene related high myopia, cataract, vitreoretinal degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5503896016 LEPREL1 gene related high myopia, cataract, vitreoretinal degeneration en Synonym (core metadata concept) 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
Prolyl 3-hydroxylase 2 gene related high myopia, cataract, vitreoretinal degeneration (disorder) Is a Cataract true Inferred relationship Some
Prolyl 3-hydroxylase 2 gene related high myopia, cataract, vitreoretinal degeneration (disorder) Is a Vitreoretinal degeneration true Inferred relationship Some
Prolyl 3-hydroxylase 2 gene related high myopia, cataract, vitreoretinal degeneration (disorder) Is a Connective tissue hereditary disorder (disorder) true Inferred relationship Some
Prolyl 3-hydroxylase 2 gene related high myopia, cataract, vitreoretinal degeneration (disorder) Is a Rare isolated myopia true Inferred relationship Some
Prolyl 3-hydroxylase 2 gene related high myopia, cataract, vitreoretinal degeneration (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Prolyl 3-hydroxylase 2 gene related high myopia, cataract, vitreoretinal degeneration (disorder) Finding site Lens clear true Inferred relationship Some 1
Prolyl 3-hydroxylase 2 gene related high myopia, cataract, vitreoretinal degeneration (disorder) Associated morphology Opacity true Inferred relationship Some 1
Prolyl 3-hydroxylase 2 gene related high myopia, cataract, vitreoretinal degeneration (disorder) Finding site Peripheral retina true Inferred relationship Some 2
Prolyl 3-hydroxylase 2 gene related high myopia, cataract, vitreoretinal degeneration (disorder) Associated morphology Atrophy true Inferred relationship Some 2
Prolyl 3-hydroxylase 2 gene related high myopia, cataract, vitreoretinal degeneration (disorder) Finding site Vitreous body structure true Inferred relationship Some 3
Prolyl 3-hydroxylase 2 gene related high myopia, cataract, vitreoretinal degeneration (disorder) Associated morphology Atrophy true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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