FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server  |   User: [n/a]

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 Reference Sets
3318044015 Vici syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3318045019 Vici syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3318046018 Dionisi Vici Sabetta Gambarara syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation 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 GB English: Preferred (foundation metadata concept)
870791000172111 syndrome d'immunodéficience, cataracte, agénésie du corps calleux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
937851000172115 syndrome de Vici fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
972801000172118 syndroom van Vici nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)
993491000172111 agenesie van corpus callosum, cataract, immuundeficiëntie-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2189201000172119 syndroom van Dionisi-Vici-Sabetta-Gambarara nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2189211000172116 "syndroom van agenesie van corpus callosum, cataract en immunodeficiëntie" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2189221000172114 Vici-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2189231000172112 "agenesie van corpus callosum, cataract, immunodeficiëntie-syndroom" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2189241000172117 "syndroom van immunodeficiëntie met gespleten gehemelte en lip, cataract, hypopigmentatie en afwezig corpus callosum" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)

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 false 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

GB English

US English

Back to Start