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

733049004: Encephalopathy, intracerebral calcification, retinal degeneration 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
3498634010 Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498635011 Encephalopathy, intracerebral calcification, retinal degeneration syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498636012 Bonnemann Meinecke Reich syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403695010 Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403696011 Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterised by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498634010 Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498635011 Encephalopathy, intracerebral calcification, retinal degeneration syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498636012 Bonnemann Meinecke Reich syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499948016 A syndrome of multiple congenital anomalies with characteristics of encephalopathy that predominantly occurs in the first year of life and presents as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403695010 Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403696011 Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterised by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
537121000274118 Enzephalopathie mit intrazerebraler Kalzifikation und Retinadegeneration de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3445611001000115 Bonneman-Meinecke-Reich-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6105831000241116 syndrome de Bonnemann-Meinecke-Reich fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6105841000241114 syndrome d'encéphalopathie, calcification intracérébrale et dégénérescence rétinienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6105831000241116 syndrome de Bonnemann-Meinecke-Reich fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6105841000241114 syndrome d'encéphalopathie, calcification intracérébrale et dégénérescence rétinienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
537121000274118 Enzephalopathie mit intrazerebraler Kalzifikation und Retinadegeneration de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3445611001000115 Bonneman-Meinecke-Reich-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
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a Cerebral calcification true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a Degeneration of retina (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 5
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Finding site Retinal structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Associated morphology Pathologic calcification false Inferred relationship Existential restriction modifier (core metadata concept) 4
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. false Inferred relationship Existential restriction modifier (core metadata concept) 4
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a Anomalies of cerebrum false Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a Congenital anomaly of retina true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 2
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. true Inferred relationship Existential restriction modifier (core metadata concept) 1
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Associated morphology Pathologic calcification true Inferred relationship Existential restriction modifier (core metadata concept) 1
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Finding site Retinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a Congenital anomaly of cerebrum (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a Hereditary degenerative disease of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a Congenital degeneration of nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 4
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start