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773497001: syndrome d'agénésie partielle du corps calleux-hypoplasie du vermis avec kystes de la fosse postérieure (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3723727016 Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723728014 Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
771521000241119 syndrome d'agénésie partielle du corps calleux-hypoplasie du vermis avec kystes de la fosse postérieure (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
913941000172110 syndrome d'agénésie partielle du corps calleux-hypoplasie du vermis avec kystes de la fosse postérieure fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3723729018 A rare hereditary cerebral malformation with epilepsy syndrome with characteristics of severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. 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
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome est un(e) (attribut) Cystic malformation of posterior fossa (disorder) true Inferred relationship Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome localisation d'une constatation (attribut) Infratentorial brain structure true Inferred relationship Some 2
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome survenue (attribut) congénital true Inferred relationship Some 3
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome est un(e) (attribut) Congenital cerebellar hypoplasia true Inferred relationship Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome est un(e) (attribut) épilepsie réfractaire true Inferred relationship Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome localisation d'une constatation (attribut) Cerebellar vermis structure true Inferred relationship Some 1
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 1
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome est un(e) (attribut) Partial agenesis of corpus callosum true Inferred relationship Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome survenue (attribut) congénital true Inferred relationship Some 1
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 2
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome survenue (attribut) congénital true Inferred relationship Some 2
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome localisation d'une constatation (attribut) Corpus callosum structure false Inferred relationship Some 3
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome morphologie associée (attribut) Aplasia false Inferred relationship Some 3
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome morphologie associée (attribut) Cystic dilatation true Inferred relationship Some 2
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome localisation d'une constatation (attribut) Corpus callosum part true Inferred relationship Some 3
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome morphologie associée (attribut) Agenesis (morphologic abnormality) true Inferred relationship Some 3
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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