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722457005: Juvenile cataract, microcornea, renal glucosuria syndrome (disorder)


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
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) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Is a Microcornea true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Is a Familial renal glucosuria true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Is a Disorder of carbohydrate absorption true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Is a Juvenile cataract (disorder) true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Finding site Corneal structure false Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Finding site Kidney structure false Inferred relationship Some 4
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Finding site Kidney structure true Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Associated morphology Cataract false Inferred relationship Some 5
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Finding site Lens clear false Inferred relationship Some 5
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Finding site Corneal structure 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) Associated morphology Congenital smallness true Inferred relationship Some 1
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Associated morphology 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) Finding site Lens clear true Inferred relationship Some 2
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Associated morphology Opacity true Inferred relationship Some 2
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Is a Metabolic renal disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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US English

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