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699256006: Timothy syndrome type 1 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2014. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
2983304019 Long QT syndrome with syndactyly en Synonym Active Only initial character case insensitive SNOMED CT core module
2983535012 Timothy syndrome type 1 (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
2983538014 Timothy syndrome classic type en Synonym Active Entire term case sensitive SNOMED CT core module
2983544013 Timothy syndrome type 1 en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Timothy syndrome type 1 Occurrence Congenital false Inferred relationship Existential restriction modifier
Timothy syndrome type 1 Finding site Heart structure true Inferred relationship Existential restriction modifier 2
Timothy syndrome type 1 Is a Syndactyly true Inferred relationship Existential restriction modifier
Timothy syndrome type 1 Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier 3
Timothy syndrome type 1 Finding site Digit structure false Inferred relationship Existential restriction modifier 3
Timothy syndrome type 1 Is a Long QT syndrome with genetic marker false Inferred relationship Existential restriction modifier
Timothy syndrome type 1 Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Timothy syndrome type 1 Associated morphology Congenital abnormal fusion true Inferred relationship Existential restriction modifier 1
Timothy syndrome type 1 Finding site Digit structure true Inferred relationship Existential restriction modifier 1
Timothy syndrome type 1 Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier
Timothy syndrome type 1 Is a Multiple system malformation syndrome false Inferred relationship Existential restriction modifier
Timothy syndrome type 1 Is a Cardiovascular system hereditary disorder false Inferred relationship Existential restriction modifier
Timothy syndrome type 1 Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Timothy syndrome type 1 Is a Congenital cardiovascular disorder false Inferred relationship Existential restriction modifier
Timothy syndrome type 1 Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Timothy syndrome type 1 Is a Congenital long QT syndrome true Inferred relationship Existential restriction modifier
Timothy syndrome type 1 Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Timothy syndrome type 1 Is a Timothy syndrome true Inferred relationship Existential restriction modifier
Timothy syndrome type 1 Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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