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399336001: Juvenile cataract (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1767256019 Juvenile cataract (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1778787017 Juvenile cataract en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2621512012 Childhood cataract en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2621513019 Cataract in child en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
307101000077119 cataracte juvénile fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
609531000274118 Katarakt im Kindesalter de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
609541000274111 Juvenile Katarakt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Juvenile cataract (disorder) Is a Cataract false Inferred relationship Some
Juvenile cataract (disorder) Finding site Lens clear true Inferred relationship Some 1
Juvenile cataract (disorder) Associated morphology Abnormally opaque structure (morphologic abnormality) false Inferred relationship Some 1
Juvenile cataract (disorder) Associated morphology Abnormally opaque structure (morphologic abnormality) true Inferred relationship Some 1
Juvenile cataract (disorder) Finding site Lens clear false Inferred relationship Some 1
Juvenile cataract (disorder) Associated morphology Cataract false Inferred relationship Some 2
Juvenile cataract (disorder) Finding site Lens clear false Inferred relationship Some 2
Juvenile cataract (disorder) Is a Infantile and/or juvenile cataract true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Is a True Juvenile cataract (disorder) Inferred relationship Some
A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium). Is a True Juvenile cataract (disorder) Inferred relationship Some

This concept is not in any reference sets

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