Hyperphenylalaninemia due to DNAJC12 deficiency 1177177000
SNOMED CT code
| SNOMED code | 1177177000 |
|---|---|
| name | Hyperphenylalaninemia due to DNAJC12 deficiency |
| status | active |
| date introduced | 2021-10-31 |
| fully specified name(s) | Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency (disorder) |
| synonyms |
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| attributes - group2 | |
| Interprets | Movement 255324009 |
| attributes - group1 | |
| Finding site | Extrapyramidal system structure 76375004 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Finding of movement 298325004 Movement disorder 60342002 Extrapyramidal disease 76349003 Dystonia 15802004 Hyperphenylalaninemia due to DNAJC12 deficiency 1177177000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 Hyperphenylalaninemia due to DNAJC12 deficiency 1177177000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of acid-base balance 26436007 Acidemia 70731005 Aminoacidemia 46556004 Hyperphenylalaninemia 68528007 Hyperphenylalaninemia due to DNAJC12 deficiency 1177177000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Hyperphenylalaninemia due to DNAJC12 deficiency 1177177000 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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