719824001: syndrome de Vici (trouble)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Vici syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Vici syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Vici syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Vici syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Vici syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Vici syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Vici syndrome (disorder)

\Viscus structure finding (finding)\constatation cardiaque\...

\Myocardial finding\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Vici syndrome (disorder)

\cardiopathie (trouble)\atteinte de la structure du cœur\Congestive cardiomyopathy (disorder)\Vici syndrome (disorder)
\cardiopathie (trouble)\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Vici syndrome (disorder)

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\constatation à propos l'encéphale\Disorder of brain (disorder)\...

\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Vici syndrome (disorder)
\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Vici syndrome (disorder)
\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Vici syndrome (disorder)

\leuco-encéphalopathie\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Vici syndrome (disorder)

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Vici syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Vici syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\Congenital oculocutaneous hypopigmentation\Vici syndrome (disorder)
\Finding of head region\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Vici syndrome (disorder)
\Finding of head region\leuco-encéphalopathie\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Vici syndrome (disorder)

\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Vici syndrome (disorder)
\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Vici syndrome (disorder)
\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Vici syndrome (disorder)
\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Vici syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Vici syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Vici syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\Vici syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\Vici syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\leuco-encéphalopathie\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\Vici syndrome (disorder)

\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Vici syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\Congenital oculocutaneous hypopigmentation\Vici syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Vici syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Vici syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Vici syndrome (disorder)

\constatation cardiovasculaire\constatation cardiaque\Myocardial finding\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Vici syndrome (disorder)
\constatation cardiovasculaire\constatation cardiaque\cardiopathie (trouble)\atteinte de la structure du cœur\Congestive cardiomyopathy (disorder)\Vici syndrome (disorder)
\constatation cardiovasculaire\constatation cardiaque\cardiopathie (trouble)\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Vici syndrome (disorder)
\constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Vici syndrome (disorder)
\constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\Congestive cardiomyopathy (disorder)\Vici syndrome (disorder)
\constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\maladie du myocarde\Cardiomyopathy\Congestive cardiomyopathy (disorder)\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

754931000241113 syndrome de Vici (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

870791000172111 syndrome d'immunodéficience, cataracte, agénésie du corps calleux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

937851000172115 syndrome de Vici fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Vici syndrome (disorder)	survenue (attribut)	congénital	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)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Vici syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Vici syndrome (disorder)	localisation d'une constatation (attribut)	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)	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	true	Inferred relationship	Some	2
Vici syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	3
Vici syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	4
Vici syndrome (disorder)	morphologie associée (attribut)	Hypopigmentation	true	Inferred relationship	Some	3
Vici syndrome (disorder)	morphologie associée (attribut)	Agenesis (morphologic abnormality)	true	Inferred relationship	Some	1
Vici syndrome (disorder)	morphologie associée (attribut)	Hypopigmentation	true	Inferred relationship	Some	2
Vici syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Vici syndrome (disorder)	est un(e) (attribut)	agénésie du corps calleux (trouble)	true	Inferred relationship	Some
Vici syndrome (disorder)	est un(e) (attribut)	Congenital immunodeficiency disease	true	Inferred relationship	Some
Vici syndrome (disorder)	est un(e) (attribut)	Congenital oculocutaneous hypopigmentation	true	Inferred relationship	Some
Vici syndrome (disorder)	est un(e) (attribut)	syndrome de malformations multisystémiques	true	Inferred relationship	Some
Vici syndrome (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Vici syndrome (disorder)	est un(e) (attribut)	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Vici syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of immune system	true	Inferred relationship	Some
Vici syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of the integument	false	Inferred relationship	Some
Vici syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of nervous system	true	Inferred relationship	Some
Vici syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of the visual system	true	Inferred relationship	Some
Vici syndrome (disorder)	est un(e) (attribut)	Congestive cardiomyopathy (disorder)	true	Inferred relationship	Some
Vici syndrome (disorder)	est un(e) (attribut)	Combined immunodeficiency disease	true	Inferred relationship	Some
Vici syndrome (disorder)	est défini par la manifestation de (attribut)	Immune system finding	false	Inferred relationship	Some
Vici syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	5
Vici syndrome (disorder)	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	8
Vici syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	8
Vici syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	8
Vici syndrome (disorder)	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	6
Vici syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	6
Vici syndrome (disorder)	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	false	Inferred relationship	Some	6
Vici syndrome (disorder)	morphologie associée (attribut)	dilatation	true	Inferred relationship	Some	7
Vici syndrome (disorder)	localisation d'une constatation (attribut)	structure du myocarde	true	Inferred relationship	Some	7
Vici syndrome (disorder)	morphologie associée (attribut)	Congenital absence	false	Inferred relationship	Some	5
Vici syndrome (disorder)	localisation d'une constatation (attribut)	Entire corpus callosum	false	Inferred relationship	Some	5
Vici syndrome (disorder)	est un(e) (attribut)	Genetic disorder of skin pigmentation (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start

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
754931000241113	syndrome de Vici (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
870791000172111	syndrome d'immunodéficience, cataracte, agénésie du corps calleux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
937851000172115	syndrome de Vici	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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