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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
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 Only initial character case insensitive (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 Only initial character 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
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
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
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
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
Juvenile cataract, microcornea, renal glucosuria syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile cataract, microcornea, renal glucosuria syndrome Is a Microcornea true Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile cataract, microcornea, renal glucosuria syndrome Is a Familial renal glucosuria (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile cataract, microcornea, renal glucosuria syndrome Is a Disorder of carbohydrate absorption true Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile cataract, microcornea, renal glucosuria syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile cataract, microcornea, renal glucosuria syndrome Is a Juvenile cataract true Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile cataract, microcornea, renal glucosuria syndrome Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile cataract, microcornea, renal glucosuria syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 3
Juvenile cataract, microcornea, renal glucosuria syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Juvenile cataract, microcornea, renal glucosuria syndrome Finding site Corneal structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Juvenile cataract, microcornea, renal glucosuria syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Juvenile cataract, microcornea, renal glucosuria syndrome Finding site Kidney structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Juvenile cataract, microcornea, renal glucosuria syndrome Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Juvenile cataract, microcornea, renal glucosuria syndrome Associated morphology Cataract false Inferred relationship Existential restriction modifier (core metadata concept) 5
Juvenile cataract, microcornea, renal glucosuria syndrome Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Juvenile cataract, microcornea, renal glucosuria syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Juvenile cataract, microcornea, renal glucosuria syndrome Finding site Corneal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Juvenile cataract, microcornea, renal glucosuria syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Juvenile cataract, microcornea, renal glucosuria syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 1
Juvenile cataract, microcornea, renal glucosuria syndrome Associated morphology Cataract false Inferred relationship Existential restriction modifier (core metadata concept) 2
Juvenile cataract, microcornea, renal glucosuria syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Juvenile cataract, microcornea, renal glucosuria syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Juvenile cataract, microcornea, renal glucosuria syndrome Finding site Structure of lens of eye (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Juvenile cataract, microcornea, renal glucosuria syndrome Associated morphology Opacity true Inferred relationship Existential restriction modifier (core metadata concept) 2
Juvenile cataract, microcornea, renal glucosuria syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile cataract, microcornea, renal glucosuria syndrome Is a Metabolic renal disease true Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile cataract, microcornea, renal glucosuria syndrome Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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