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722457005: syndrome de cataracte juvénile-microcornée-glucosurie rénale (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3332217015 Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332218013 Juvenile cataract, microcornea, renal glucosuria syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
758771000241118 syndrome de cataracte juvénile-microcornée-glucosurie rénale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
975711000172116 syndrome de cataracte juvénile-microcornée-glucosurie rénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3332219017 An extremely rare autosomal dominant association reported in a single Swiss family with clinical characteristics of juvenile cataract associated with bilateral microcornea and renal glucosuria without other renal tubular defects. 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
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) localisation d'une constatation (attribut) cornée (structure corporelle) true Inferred relationship Some 1
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 1
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) morphologie associée (attribut) Cataract false Inferred relationship Some 2
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) localisation d'une constatation (attribut) cristallin true Inferred relationship Some 2
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) morphologie associée (attribut) opacité true Inferred relationship Some 2
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) est un(e) (attribut) maladie métabolique du rein true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) est un(e) (attribut) Microcornea true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) est un(e) (attribut) Familial renal glucosuria true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) est un(e) (attribut) Disorder of carbohydrate absorption true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) est un(e) (attribut) Juvenile cataract (disorder) true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) est un(e) (attribut) Hereditary nephropathy (disorder) true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) morphologie associée (attribut) Congenital smallness false Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) localisation d'une constatation (attribut) cornée (structure corporelle) false Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) localisation d'une constatation (attribut) structure d'un rein false Inferred relationship Some 4
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) localisation d'une constatation (attribut) structure d'un rein true Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) morphologie associée (attribut) Cataract false Inferred relationship Some 5
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) localisation d'une constatation (attribut) cristallin false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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