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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3332218013 Juvenile cataract, microcornea, renal glucosuria syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Juvenile cataract, microcornea, renal glucosuria syndrome Occurrence Congenital true Inferred relationship Some 1
Juvenile cataract, microcornea, renal glucosuria syndrome Finding site Corneal structure true Inferred relationship Some 1
Juvenile cataract, microcornea, renal glucosuria syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Juvenile cataract, microcornea, renal glucosuria syndrome Associated morphology Congenital smallness true Inferred relationship Some 1
Juvenile cataract, microcornea, renal glucosuria syndrome Associated morphology Cataract false Inferred relationship Some 2
Juvenile cataract, microcornea, renal glucosuria syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Juvenile cataract, microcornea, renal glucosuria syndrome Finding site Structure of lens of eye true Inferred relationship Some 2
Juvenile cataract, microcornea, renal glucosuria syndrome Associated morphology Abnormally opaque structure true Inferred relationship Some 2
Juvenile cataract, microcornea, renal glucosuria syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome Is a Metabolic renal disease true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome Is a Microcornea true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome Is a Familial renal glucosuria true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome Is a Disorder of carbohydrate absorption true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome Is a Juvenile cataract true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome Is a Hereditary nephropathy true Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome Associated morphology Congenital smallness false Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome Occurrence Congenital true Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome Finding site Corneal structure false Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome Occurrence Congenital false Inferred relationship Some 4
Juvenile cataract, microcornea, renal glucosuria syndrome Finding site Kidney structure false Inferred relationship Some 4
Juvenile cataract, microcornea, renal glucosuria syndrome Finding site Kidney structure true Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome Associated morphology Cataract false Inferred relationship Some 5
Juvenile cataract, microcornea, renal glucosuria syndrome Finding site Structure of lens of eye false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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