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722282008: syndrome d'agénésie du corps calleux-déficience intellectuelle-colobome-micrognathie (trouble)


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
3331424015 Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331425019 Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331426018 Graham Cox syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
758491000241113 syndrome d'agénésie du corps calleux-déficience intellectuelle-colobome-micrognathie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
973631000172117 syndrome d'agénésie du corps calleux-déficience intellectuelle-colobome-micrognathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
989511000172116 syndrome de Graham-Cox fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3331428017 A developmental anomaly syndrome with characteristics of coloboma of the iris and optic nerve, facial dysmorphism (high forehead, micro retrognathia, low-set ears) intellectual deficit, agenesis of the corpus callosum, sensorineural hearing loss, skeletal anomalies and short stature. Caused by mutation in the IGBP1 gene. 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
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) localisation d'une constatation (attribut) iris true Inferred relationship Some 2
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) localisation d'une constatation (attribut) os de la mandibule true Inferred relationship Some 3
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 3
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) localisation d'une constatation (attribut) Entire corpus callosum true Inferred relationship Some 1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) morphologie associée (attribut) Agenesis (morphologic abnormality) true Inferred relationship Some 1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) X-linked recessive hereditary disease true Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) agénésie du corps calleux (trouble) true Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) Coloboma of iris false Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) Congenital micrognathism true Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 5
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) localisation d'une constatation (attribut) iris false Inferred relationship Some 5
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) localisation d'une constatation (attribut) Entire corpus callosum false Inferred relationship Some 4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) false Inferred relationship Some 6
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) localisation d'une constatation (attribut) os de la mandibule false Inferred relationship Some 6
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) Congenital coloboma of iris (disorder) true Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) localisation d'une constatation (attribut) iris false Inferred relationship Some 1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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