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722282008: Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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
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
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
973631000172117 syndrome d'agénésie du corps calleux-déficience intellectuelle-colobome-micrognathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
989511000172116 syndrome de Graham-Cox fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
896661000172116 syndroom van Graham-Cox nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
966181000172110 agenesie van corpus callosum, intellectuele achterstand, coloboom, micrognathie-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Is a Agenesis of corpus callosum true Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Is a Coloboma of iris false Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Is a Congenital micrognathism true Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Is a retard mental false Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Some 5
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Finding site Iris structure false Inferred relationship Some 5
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Finding site Entire corpus callosum false Inferred relationship Some 4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Associated morphology Hypoplasia false Inferred relationship Some 6
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Finding site Bone structure of mandible false Inferred relationship Some 6
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Is a Congenital coloboma of iris true Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Finding site Iris structure false Inferred relationship Some 1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
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) Occurrence Congenital 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) Occurrence Congenital true Inferred relationship Some 3
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Finding site Iris structure true Inferred relationship Some 2
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Finding site Bone structure of mandible true Inferred relationship Some 3
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 3
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Finding site Entire corpus callosum true Inferred relationship Some 1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Associated morphology 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) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Finding site Face structure false Inferred relationship Some 4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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