3-phosphoglycerate dehydrogenase deficiency infantile form 733637001
SNOMED CT code
SNOMED code | 733637001 |
---|---|
name | 3-phosphoglycerate dehydrogenase deficiency infantile form |
status | active |
date introduced | 2017-07-31 |
fully specified name(s) | 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) |
synonyms | 3-phosphoglycerate dehydrogenase deficiency infantile form |
attributes - group1 | |
Pathological process | Pathological developmental process 308490002 |
Finding site | Head structure 69536005 |
Associated morphology | Congenital smallness 41086002 |
Occurrence | Congenital 255399007 |
attributes - group2 | |
Has interpretation | Below reference range 281300000 |
Interprets | Birth head circumference 169876006 |
attributes - group3 | |
Finding site | Nervous system structure 25087005 |
Occurrence | Congenital 255399007 |
parents |
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hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital microcephaly 1148758003 3-phosphoglycerate dehydrogenase deficiency infantile form 733637001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 3-phosphoglycerate dehydrogenase deficiency infantile form 733637001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of organic acid metabolism 116021002 Disorder of amino acid metabolism 44779003 Disorder of amino acid and organic acid metabolism 237911005 Disorder of serine metabolism 303097007 3-Phosphoglycerate dehydrogenase deficiency 303098002 3-phosphoglycerate dehydrogenase deficiency infantile form 733637001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 3-phosphoglycerate dehydrogenase deficiency infantile form 733637001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 3-phosphoglycerate dehydrogenase deficiency infantile form 733637001 |
ancestors | sorted most to least specific
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cpt crosswalks |
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