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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
5402952018 A rare autosomal dominant association characterized clinically by 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
5402953011 A rare autosomal dominant association characterised clinically by 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
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
975711000172116 syndrome de cataracte juvénile-microcornée-glucosurie rénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3420381001000112 Juvenile Katarakt-Mikrokornea-renale Glukosurie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Is a Microcornea true Inferred relationship Some
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Is a Familial renal glucosuria true Inferred relationship Some
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Is a Disorder of carbohydrate absorption true Inferred relationship Some
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Is a Hereditary disorder of the visual system true Inferred relationship Some
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Is a Juvenile cataract (disorder) true Inferred relationship Some
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Is a Hereditary nephropathy (disorder) true Inferred relationship Some
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Associated morphology Congenital smallness false Inferred relationship Some 3
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Occurrence Congenital true Inferred relationship Some 3
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Finding site Corneal structure false Inferred relationship Some 3
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Occurrence Congenital false Inferred relationship Some 4
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Finding site Kidney structure false Inferred relationship Some 4
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Finding site Kidney structure true Inferred relationship Some 3
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Associated morphology Cataract false Inferred relationship Some 5
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Finding site Lens clear false Inferred relationship Some 5
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Occurrence Congenital true Inferred relationship Some 1
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Finding site Corneal structure true Inferred relationship Some 1
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Associated morphology Congenital smallness false Inferred relationship Some 1
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Associated morphology Cataract false Inferred relationship Some 2
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Finding site Lens clear true Inferred relationship Some 2
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Associated morphology Abnormally opaque structure (morphologic abnormality) true Inferred relationship Some 2
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Is a Developmental hereditary disorder true Inferred relationship Some
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Is a Metabolic renal disease true Inferred relationship Some
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Description inactivation indicator reference set

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US English

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