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723503006: syndroom van retinadegeneratie, nanophthalmos en glaucoom (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3424860014 Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424861013 Retinal degeneration, nanophthalmos, glaucoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424862018 Mackay Shek Carr syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6955881000146110 syndroom van retinadegeneratie, nanoftalmie en glaucoom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6955891000146112 syndroom van retinadegeneratie, nanophthalmos en glaucoom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7537911000146113 syndroom van retinadegeneratie, nanophthalmos en glaucoom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3424863011 Syndrome with characteristics of progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive. en Definition 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
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Is a Degeneration of retina true Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Is a Congenital glaucoma true Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Is a Nanophthalmia (disorder) true Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Associated morphology congenitale kleinheid false Inferred relationship Some 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Finding site geheel oog (lichaamsstructuur) false Inferred relationship Some 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Associated morphology Pigmentary degeneration false Inferred relationship Some 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Finding site Retinal structure false Inferred relationship Some 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Associated morphology congenitale kleinheid false Inferred relationship Some 3
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Finding site geheel oog (lichaamsstructuur) false Inferred relationship Some 3
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Associated morphology Pigmentary degeneration true Inferred relationship Some 1
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Finding site Retinal structure true Inferred relationship Some 1
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Is a Congenital anomaly of retina true Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Finding site Entire eye proper true Inferred relationship Some 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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