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774205007: Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3728343010 Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3728344016 Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome (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
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome Is a Disorder of mitochondrial respiratory chain complexes true Inferred relationship Existential restriction modifier
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome Finding site Structure of nervous system true Inferred relationship Existential restriction modifier 1
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome Is a Inherited metabolic disorder of nervous system true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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