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1208341008: Severe oculo-renal-cerebellar syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4963735012 Severe oculo-renal-cerebellar syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963736013 Hunter Jurenka Thompson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4963737016 Oculorenocerebellar syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963738014 Severe oculo-renal-cerebellar syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963739018 ORC (oculo-renal-cerebellar) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399810014 A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399811013 A rare multiple congenital anomalies/dysmorphic syndrome characterised by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4963735012 Severe oculo-renal-cerebellar syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963736013 Hunter Jurenka Thompson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4963737016 Oculorenocerebellar syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963738014 Severe oculo-renal-cerebellar syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963739018 ORC (oculo-renal-cerebellar) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4963740016 A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399810014 A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399811013 A rare multiple congenital anomalies/dysmorphic syndrome characterised by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
592561000274111 Hunter-Jurenka-Thompson-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
592571000274115 Schweres okulo-reno-zerebelläres Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
592561000274111 Hunter-Jurenka-Thompson-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
592571000274115 Schweres okulo-reno-zerebelläres Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454641001000117 Okulo-reno-zerebelläres Syndrom, schweres 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
Severe oculo-renal-cerebellar syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a Chronic disease of genitourinary system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a Chronic mental disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a Glomerular disease true Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a Choreoathetosis true Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a Chronic brain syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a Degeneration of retina (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 4
Severe oculo-renal-cerebellar syndrome (disorder) Interprets Movement false Inferred relationship Existential restriction modifier (core metadata concept) 8
Severe oculo-renal-cerebellar syndrome (disorder) Finding site Basal ganglion structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Severe oculo-renal-cerebellar syndrome (disorder) Finding site Glomerulus structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Severe oculo-renal-cerebellar syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe oculo-renal-cerebellar syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe oculo-renal-cerebellar syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe oculo-renal-cerebellar syndrome (disorder) Finding site Retinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe oculo-renal-cerebellar syndrome (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe oculo-renal-cerebellar syndrome (disorder) Is a Cerebellar disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a Spastic diplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe oculo-renal-cerebellar syndrome (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Severe oculo-renal-cerebellar syndrome (disorder) Interprets Adaptation behavior false Inferred relationship Existential restriction modifier (core metadata concept) 9
Severe oculo-renal-cerebellar syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 9
Severe oculo-renal-cerebellar syndrome (disorder) Interprets Intellectual ability (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept) 10
Severe oculo-renal-cerebellar syndrome (disorder) Has interpretation Impaired (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 10
Severe oculo-renal-cerebellar syndrome (disorder) Is a Chronic disease of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Finding site Skeletal muscle structure of limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Severe oculo-renal-cerebellar syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 11
Severe oculo-renal-cerebellar syndrome (disorder) Interprets Muscle tone true Inferred relationship Existential restriction modifier (core metadata concept) 12
Severe oculo-renal-cerebellar syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 9
Severe oculo-renal-cerebellar syndrome (disorder) Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 10
Severe oculo-renal-cerebellar syndrome (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 10
Severe oculo-renal-cerebellar syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 11
Severe oculo-renal-cerebellar syndrome (disorder) Has interpretation Increased true Inferred relationship Existential restriction modifier (core metadata concept) 12
Severe oculo-renal-cerebellar syndrome (disorder) Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 8
Severe oculo-renal-cerebellar syndrome (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 13
Severe oculo-renal-cerebellar syndrome (disorder) Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 8

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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