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733637001: 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3472899015 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3472900013 3-phosphoglycerate dehydrogenase deficiency infantile form en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
3-phosphoglycerate dehydrogenase deficiency infantile form Is a Microcephalus false Inferred relationship Existential restriction modifier
3-phosphoglycerate dehydrogenase deficiency infantile form Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier
3-phosphoglycerate dehydrogenase deficiency infantile form Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
3-phosphoglycerate dehydrogenase deficiency infantile form Is a Inherited metabolic disorder of nervous system true Inferred relationship Existential restriction modifier
3-phosphoglycerate dehydrogenase deficiency infantile form Is a 3-Phosphoglycerate dehydrogenase deficiency true Inferred relationship Existential restriction modifier
3-phosphoglycerate dehydrogenase deficiency infantile form Associated morphology Congenital smallness true Inferred relationship Existential restriction modifier 1
3-phosphoglycerate dehydrogenase deficiency infantile form Occurrence Congenital true Inferred relationship Existential restriction modifier 1
3-phosphoglycerate dehydrogenase deficiency infantile form Finding site Brain structure false Inferred relationship Existential restriction modifier 1
3-phosphoglycerate dehydrogenase deficiency infantile form Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
3-phosphoglycerate dehydrogenase deficiency infantile form Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
3-phosphoglycerate dehydrogenase deficiency infantile form Finding site Head structure true Inferred relationship Existential restriction modifier 1
3-phosphoglycerate dehydrogenase deficiency infantile form Has interpretation Below reference range true Inferred relationship Existential restriction modifier 2
3-phosphoglycerate dehydrogenase deficiency infantile form Is a Congenital microcephaly true Inferred relationship Existential restriction modifier
3-phosphoglycerate dehydrogenase deficiency infantile form Interprets Birth head circumference true Inferred relationship Existential restriction modifier 2
3-phosphoglycerate dehydrogenase deficiency infantile form Finding site Structure of nervous system true Inferred relationship Existential restriction modifier 3
3-phosphoglycerate dehydrogenase deficiency infantile form Occurrence Congenital true Inferred relationship Existential restriction modifier 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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