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1230376005: Contactin associated protein 2-related developmental and epileptic encephalopathy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Jun 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
5069593012 Contactin associated protein 2-related developmental and epileptic encephalopathy en Synonym Active Entire term case insensitive SNOMED CT core module
5069594018 CNTNAP2-related developmental and epileptic encephalopathy en Synonym Active Entire term case sensitive SNOMED CT core module
5069595017 Cortical dysplasia, focal epilepsy syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
5069596016 Contactin associated protein 2-related developmental and epileptic encephalopathy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Contactin associated protein 2-related developmental and epileptic encephalopathy Is a Intellectual disability true Inferred relationship Existential restriction modifier
Contactin associated protein 2-related developmental and epileptic encephalopathy Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Contactin associated protein 2-related developmental and epileptic encephalopathy Is a Hereditary disorder of nervous system true Inferred relationship Existential restriction modifier
Contactin associated protein 2-related developmental and epileptic encephalopathy Is a Epileptic encephalopathy true Inferred relationship Existential restriction modifier
Contactin associated protein 2-related developmental and epileptic encephalopathy Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Contactin associated protein 2-related developmental and epileptic encephalopathy Finding site Structure of cerebrum true Inferred relationship Existential restriction modifier 1
Contactin associated protein 2-related developmental and epileptic encephalopathy Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Contactin associated protein 2-related developmental and epileptic encephalopathy Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 3
Contactin associated protein 2-related developmental and epileptic encephalopathy Has interpretation Impaired true Inferred relationship Existential restriction modifier 3
Contactin associated protein 2-related developmental and epileptic encephalopathy Interprets Intellectual ability true Inferred relationship Existential restriction modifier 4
Contactin associated protein 2-related developmental and epileptic encephalopathy Has interpretation Impaired true Inferred relationship Existential restriction modifier 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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