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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
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
3318047010 A very rare and severe congenital multisystem disorder with the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. Usually diagnosed in the first years of life. The phenotype is variable but the principal diagnostic features are almost always present at onset or evolve over time. Caused by mutations in the EPG5 gene (18q12.3) which encodes an important autophagy regulator, ectopic P-granules autophagy protein 5 (epg5). Formation of autolysosomes is specifically disturbed by an epg5 deficiency. en Definition 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
601541000274110 Corpus callosum-Agenesie-Katarakt-Immunfdefekt-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3422621001000118 Vici-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
870791000172111 syndrome d'immunodéficience, cataracte, agénésie du corps calleux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
937851000172115 syndrome de Vici fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
870791000172111 syndrome d'immunodéficience, cataracte, agénésie du corps calleux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
937851000172115 syndrome de Vici fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
601541000274110 Corpus callosum-Agenesie-Katarakt-Immunfdefekt-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3422621001000118 Vici-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
Vici syndrome (disorder) Is a Agenesis of corpus callosum true Inferred relationship Existential restriction modifier (core metadata concept)
Vici syndrome (disorder) Is a Congenital immunodeficiency disease true Inferred relationship Existential restriction modifier (core metadata concept)
Vici syndrome (disorder) Is a Congenital oculocutaneous hypopigmentation true Inferred relationship Existential restriction modifier (core metadata concept)
Vici syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Vici syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Vici syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Vici syndrome (disorder) Is a Hereditary disorder of immune system true Inferred relationship Existential restriction modifier (core metadata concept)
Vici syndrome (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Vici syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Vici syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Vici syndrome (disorder) Is a Congestive cardiomyopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Vici syndrome (disorder) Is a Combined immunodeficiency disease true Inferred relationship Existential restriction modifier (core metadata concept)
Vici syndrome (disorder) Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
Vici syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Vici syndrome (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 8
Vici syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Vici syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
Vici syndrome (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 6
Vici syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Vici syndrome (disorder) Finding site Eye structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Vici syndrome (disorder) Associated morphology Dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 7
Vici syndrome (disorder) Finding site Myocardium structure true Inferred relationship Existential restriction modifier (core metadata concept) 7
Vici syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Vici syndrome (disorder) Finding site Entire corpus callosum false Inferred relationship Existential restriction modifier (core metadata concept) 5
Vici syndrome (disorder) Is a Genetic disorder of skin pigmentation (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Vici syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Vici syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Vici syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Vici syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Vici syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Vici syndrome (disorder) Finding site Entire corpus callosum true Inferred relationship Existential restriction modifier (core metadata concept) 1
Vici syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Vici syndrome (disorder) Finding site Eye structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Vici syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Vici syndrome (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Vici syndrome (disorder) Associated morphology Hypopigmentation true Inferred relationship Existential restriction modifier (core metadata concept) 3
Vici syndrome (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Vici syndrome (disorder) Associated morphology Hypopigmentation true Inferred relationship Existential restriction modifier (core metadata concept) 2
Vici syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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