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715951007: Acrocallosal syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304230017 Acrocallosal syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304231018 Acrocallosal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401169015 A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401170019 A rare polymalformative syndrome characterised by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. 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
Acrocallosal syndrome (disorder) Is a Agenesis of corpus callosum true Inferred relationship Some
Acrocallosal syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Acrocallosal syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Acrocallosal syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Acrocallosal syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Acrocallosal syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Acrocallosal syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Acrocallosal syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Acrocallosal syndrome (disorder) Finding site Limb structure true Inferred relationship Some 3
Acrocallosal syndrome (disorder) Finding site Face structure false Inferred relationship Some 5
Acrocallosal syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Acrocallosal syndrome (disorder) Finding site Limb structure false Inferred relationship Some 4
Acrocallosal syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 3
Acrocallosal syndrome (disorder) Finding site Entire corpus callosum false Inferred relationship Some 3
Acrocallosal syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Acrocallosal syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Acrocallosal syndrome (disorder) Finding site Entire corpus callosum true Inferred relationship Some 1
Acrocallosal syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Acrocallosal syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Acrocallosal syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Acrocallosal syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Acrocallosal syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Acrocallosal syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
Acrocallosal syndrome (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Some 1
Acrocallosal syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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