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773305003: Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder)


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
3723057016 Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723058014 Microcephaly, polymicrogyria, corpus callosum agenesis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723059018 A rare genetic central nervous system malformation syndrome with characteristics of marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. 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
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 1
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Is a Microgyria true Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Is a Agenesis of corpus callosum true Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Finding site Structure of gyrus of brain (body structure) true Inferred relationship Some 1
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Finding site Entire corpus callosum true Inferred relationship Some 2
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Some 2
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 3
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Interprets Birth head circumference true Inferred relationship Some 3
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Is a Congenital microcephaly (disorder) true Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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