FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

723503006: Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)


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
5403091017 Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by 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
5403092012 Retinal degeneration-nanophthalmos-glaucoma syndrome is characterised by 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
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
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
5403091017 Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by 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
5403092012 Retinal degeneration-nanophthalmos-glaucoma syndrome is characterised by 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
602581000274111 Mackay-Shek-Carr-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3422331001000110 Netzhautdegeneration-Nanophthalmus-Glaukom-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602581000274111 Mackay-Shek-Carr-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3422331001000110 Netzhautdegeneration-Nanophthalmus-Glaukom-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 Existential restriction modifier (core metadata concept)
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Is a Degeneration of retina (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Is a Angeborenes Glaukom true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Is a A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Finding site œil entier false Inferred relationship Existential restriction modifier (core metadata concept) 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Associated morphology Pigmentary degeneration false Inferred relationship Existential restriction modifier (core metadata concept) 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Finding site Retinal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 3
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Finding site œil entier false Inferred relationship Existential restriction modifier (core metadata concept) 3
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Associated morphology Pigmentary degeneration true Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Finding site Retinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Is a Congenital anomaly of retina true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Finding site Entire eye proper true Inferred relationship Existential restriction modifier (core metadata concept) 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start