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719824001: Vici 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
3318044015 Vici syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318045019 Vici syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318046018 Dionisi Vici Sabetta Gambarara syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402235014 Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402236010 Vici syndrome is a very rare and severe congenital multisystem disorder characterised by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. 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
Vici syndrome (disorder) Is a Agenesis of corpus callosum true Inferred relationship Some
Vici syndrome (disorder) Is a Congenital immunodeficiency disease true Inferred relationship Some
Vici syndrome (disorder) Is a Congenital oculocutaneous hypopigmentation true Inferred relationship Some
Vici syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Vici syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Vici syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Vici syndrome (disorder) Is a Hereditary disorder of immune system true Inferred relationship Some
Vici syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Vici syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Vici syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Vici syndrome (disorder) Is a Congestive cardiomyopathy (disorder) true Inferred relationship Some
Vici syndrome (disorder) Is a Combined immunodeficiency disease true Inferred relationship Some
Vici syndrome (disorder) Has definitional manifestation Immune system finding false Inferred relationship Some
Vici syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Vici syndrome (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Some 8
Vici syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Vici syndrome (disorder) Finding site Skin structure false Inferred relationship Some 8
Vici syndrome (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Some 6
Vici syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Vici syndrome (disorder) Finding site Eye structure false Inferred relationship Some 6
Vici syndrome (disorder) Associated morphology Dilatation true Inferred relationship Some 7
Vici syndrome (disorder) Finding site Myocardium structure true Inferred relationship Some 7
Vici syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 5
Vici syndrome (disorder) Finding site Entire corpus callosum false Inferred relationship Some 5
Vici syndrome (disorder) Is a Genetic disorder of skin pigmentation (disorder) true Inferred relationship Some
Vici syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Vici syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Vici syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Vici syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Vici syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Vici syndrome (disorder) Finding site Entire corpus callosum true Inferred relationship Some 1
Vici syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Vici syndrome (disorder) Finding site Eye structure true Inferred relationship Some 2
Vici syndrome (disorder) Finding site Skin structure true Inferred relationship Some 3
Vici syndrome (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 4
Vici syndrome (disorder) Associated morphology Hypopigmentation true Inferred relationship Some 3
Vici syndrome (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Some 1
Vici syndrome (disorder) Associated morphology Hypopigmentation true Inferred relationship Some 2
Vici syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

GB English

US English

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