ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 1208747005
SNOMED CT code
| SNOMED code | 1208747005 |
|---|---|
| name | ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement |
| status | active |
| date introduced | 2022-03-31 |
| fully specified name(s) | Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder) |
| synonyms |
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| attributes - group3 | |
| Clinical course | Progressive 255314001 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| attributes - group4 | |
| Finding site | Brain structure 12738006 |
| attributes - group5 | |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Interprets | Head circumference 363812007 |
| Has interpretation | Below reference range 281300000 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 1208747005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 1208747005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic metabolic disorder 128289001 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 1208747005 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Seizure 91175000 Seizure disorder 128613002 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 1208747005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 1208747005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of purine and pyrimidine metabolism 238006008 Disorder of purine metabolism 32612005 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 1208747005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 1208747005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Chronic brain syndrome 78689005 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 1208747005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 1208747005 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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