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715989002: Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304344013 Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304345014 Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304346010 Karandikar Maria Kamble syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401192015 Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401193013 Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. 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
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Associated morphology Congenital cataract false Inferred relationship Some 5
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Finding site Lens clear false Inferred relationship Some 5
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Is a Congenital cataract true Inferred relationship Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Is a Mental retardation false Inferred relationship Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Is a Anal atresia true Inferred relationship Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Is a Genitourinary congenital anomalies true Inferred relationship Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Finding site Lens clear true Inferred relationship Some 3
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Finding site Structure of genitourinary system (body structure) false Inferred relationship Some 4
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Associated morphology Congenital atresia false Inferred relationship Some 3
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Finding site Anal structure false Inferred relationship Some 3
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Finding site Anal structure true Inferred relationship Some 1
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Associated morphology Congenital atresia false Inferred relationship Some 1
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Finding site Structure of genitourinary system (body structure) true Inferred relationship Some 2
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Associated morphology Cataract false Inferred relationship Some 3
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Associated morphology Opacity true Inferred relationship Some 3
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 4
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Associated morphology Atresia (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)

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