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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
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) est un(e) (attribut) Intellectual disability true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) est un(e) (attribut) maladie chronique de l'appareil génito-urinaire true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) est un(e) (attribut) Chronic mental disorder true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) est un(e) (attribut) Glomerular disease true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) est un(e) (attribut) Hereditary nephropathy (disorder) true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) est un(e) (attribut) Choreoathetosis true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) est un(e) (attribut) Chronic brain syndrome true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) est un(e) (attribut) dégénérescence de la rétine true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 4
Severe oculo-renal-cerebellar syndrome (disorder) interprète (attribut) Movement (observable entity) true Inferred relationship Some 8
Severe oculo-renal-cerebellar syndrome (disorder) localisation d'une constatation (attribut) Basal ganglion structure (body structure) true Inferred relationship Some 5
Severe oculo-renal-cerebellar syndrome (disorder) localisation d'une constatation (attribut) Glomerulus structure true Inferred relationship Some 7
Severe oculo-renal-cerebellar syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Severe oculo-renal-cerebellar syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique 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) localisation d'une constatation (attribut) structure de la rétine true Inferred relationship Some 2
Severe oculo-renal-cerebellar syndrome (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 2
Severe oculo-renal-cerebellar syndrome (disorder) est un(e) (attribut) affection cérébelleuse true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) est un(e) (attribut) Spastic diplegia true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 1
Severe oculo-renal-cerebellar syndrome (disorder) localisation d'une constatation (attribut) structure d'un membre true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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