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1208341008: syndroom van ernstige oculorenocerebellaire afwijkingen (aandoening)

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
13605321000146116 Syndroom van Hunter-Jurenka-Thompson nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13605331000146119 syndroom van ernstige oculorenocerebellaire afwijkingen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13605341000146110 syndroom van ernstige oculorenocerebellaire afwijkingen (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13605351000146113 ernstig oculorenocerebellair syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Severe oculo-renal-cerebellar syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a Chronic disease of genitourinary system false Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a Chronic mental disorder false Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a Glomerular disease true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a Choreoathetosis true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a Chronic brain syndrome true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a Degeneration of retina true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 4
Severe oculo-renal-cerebellar syndrome (disorder) Interprets Movement false Inferred relationship Some 8
Severe oculo-renal-cerebellar syndrome (disorder) Finding site Basal ganglion structure (body structure) true Inferred relationship Some 5
Severe oculo-renal-cerebellar syndrome (disorder) Finding site Glomerulus structure true Inferred relationship Some 7
Severe oculo-renal-cerebellar syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Severe oculo-renal-cerebellar syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Severe oculo-renal-cerebellar syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Severe oculo-renal-cerebellar syndrome (disorder) Finding site Retinal structure true Inferred relationship Some 2
Severe oculo-renal-cerebellar syndrome (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2
Severe oculo-renal-cerebellar syndrome (disorder) Is a Cerebellar disorder true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a Spastic diplegia true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Finding site Cerebellar structure true Inferred relationship Some 1
Severe oculo-renal-cerebellar syndrome (disorder) Finding site Limb structure false Inferred relationship Some 6
Severe oculo-renal-cerebellar syndrome (disorder) Interprets Adaptation behavior (observable entity) false Inferred relationship Some 9
Severe oculo-renal-cerebellar syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 9
Severe oculo-renal-cerebellar syndrome (disorder) Interprets Intellectual ability (observable entity) false Inferred relationship Some 10
Severe oculo-renal-cerebellar syndrome (disorder) Has interpretation Impaired false Inferred relationship Some 10
Severe oculo-renal-cerebellar syndrome (disorder) Is a Chronic disease of musculoskeletal system true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Finding site Skeletal muscle structure of limb (body structure) true Inferred relationship Some 6
Severe oculo-renal-cerebellar syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 11
Severe oculo-renal-cerebellar syndrome (disorder) Interprets Muscle tone true Inferred relationship Some 12
Severe oculo-renal-cerebellar syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 9
Severe oculo-renal-cerebellar syndrome (disorder) Interprets Movement observable true Inferred relationship Some 10
Severe oculo-renal-cerebellar syndrome (disorder) Has interpretation Absent true Inferred relationship Some 10
Severe oculo-renal-cerebellar syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 11
Severe oculo-renal-cerebellar syndrome (disorder) Has interpretation Increased true Inferred relationship Some 12
Severe oculo-renal-cerebellar syndrome (disorder) Has interpretation Abnormal true Inferred relationship Some 8
Severe oculo-renal-cerebellar syndrome (disorder) Interprets Movement true Inferred relationship Some 13
Severe oculo-renal-cerebellar syndrome (disorder) Interprets Movement observable true Inferred relationship Some 8
Severe oculo-renal-cerebellar syndrome (disorder) Is a Chronic nephropathy (disorder) true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a Hereditary myopathy (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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