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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3723058014 Microcephaly, polymicrogyria, corpus callosum agenesis syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Associated morphology Congenital smallness true Inferred relationship Some 1
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Is a Microgyria true Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Is a Agenesis of corpus callosum true Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Finding site Structure of gyrus of brain true Inferred relationship Some 1
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Occurrence Congenital true Inferred relationship Some 1
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Occurrence Congenital true Inferred relationship Some 2
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Finding site Entire corpus callosum true Inferred relationship Some 2
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Associated morphology Agenesis true Inferred relationship Some 2
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Has interpretation Below reference range true Inferred relationship Some 3
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Interprets Birth head circumference true Inferred relationship Some 3
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Is a Congenital microcephaly true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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