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719824001: Vici syndrome (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3318045019 Vici syndrome en Synonym Active Case sensitive SNOMED CT core
3318046018 Dionisi Vici Sabetta Gambarara syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Vici syndrome Occurrence Congenital true Inferred relationship Some 3
Vici syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Vici syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Vici syndrome Occurrence Congenital true Inferred relationship Some 1
Vici syndrome Occurrence Congenital true Inferred relationship Some 2
Vici syndrome Finding site Entire corpus callosum true Inferred relationship Some 1
Vici syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Vici syndrome Finding site Eye structure true Inferred relationship Some 2
Vici syndrome Finding site Skin structure true Inferred relationship Some 3
Vici syndrome Pathological process Abnormal immune process true Inferred relationship Some 4
Vici syndrome Associated morphology Hypopigmentation true Inferred relationship Some 3
Vici syndrome Associated morphology Agenesis true Inferred relationship Some 1
Vici syndrome Associated morphology Hypopigmentation true Inferred relationship Some 2
Vici syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Vici syndrome Is a Agenesis of corpus callosum true Inferred relationship Some
Vici syndrome Is a Congenital immunodeficiency disease true Inferred relationship Some
Vici syndrome Is a Congenital oculocutaneous hypopigmentation true Inferred relationship Some
Vici syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Vici syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Vici syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Vici syndrome Is a Hereditary disorder of immune system true Inferred relationship Some
Vici syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Vici syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Vici syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Vici syndrome Is a Congestive cardiomyopathy true Inferred relationship Some
Vici syndrome Is a Combined immunodeficiency disease true Inferred relationship Some
Vici syndrome Has definitional manifestation Immune system finding false Inferred relationship Some
Vici syndrome Occurrence Congenital false Inferred relationship Some 5
Vici syndrome Associated morphology Congenital hypopigmentation false Inferred relationship Some 8
Vici syndrome Occurrence Congenital false Inferred relationship Some 8
Vici syndrome Finding site Skin structure false Inferred relationship Some 8
Vici syndrome Associated morphology Congenital hypopigmentation false Inferred relationship Some 6
Vici syndrome Occurrence Congenital false Inferred relationship Some 6
Vici syndrome Finding site Eye structure false Inferred relationship Some 6
Vici syndrome Associated morphology Dilatation true Inferred relationship Some 7
Vici syndrome Finding site Myocardium structure true Inferred relationship Some 7
Vici syndrome Associated morphology Congenital absence false Inferred relationship Some 5
Vici syndrome Finding site Entire corpus callosum false Inferred relationship Some 5
Vici syndrome Is a Genetic disorder of skin pigmentation true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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