PYCR2-related microcephaly, progressive leukoencephalopathy 1237421000
SNOMED CT code
| SNOMED code | 1237421000 |
|---|---|
| name | PYCR2-related microcephaly, progressive leukoencephalopathy |
| status | active |
| date introduced | 2022-09-30 |
| fully specified name(s) | Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy (disorder) |
| synonyms |
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| attributes - group5 | |
| Clinical course | Progressive 255314001 |
| attributes - group6 | |
| Finding site | Cerebral white matter structure 68523003 |
| attributes - group2 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group3 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| Interprets | Head circumference 363812007 |
| Has interpretation | Below reference range 281300000 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 PYCR2-related microcephaly, progressive leukoencephalopathy 1237421000 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 PYCR2-related microcephaly, progressive leukoencephalopathy 1237421000 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of head and neck region 118254002 Head finding 406122000 Finding of head region 298364001 Leukoencephalopathy 22811006 PYCR2-related microcephaly, progressive leukoencephalopathy 1237421000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 PYCR2-related microcephaly, progressive leukoencephalopathy 1237421000 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 PYCR2-related microcephaly, progressive leukoencephalopathy 1237421000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of face 118930001 Congenital anomaly of face 398302004 Multiple malformation syndrome with facial defects as major feature 65094009 PYCR2-related microcephaly, progressive leukoencephalopathy 1237421000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Chronic brain syndrome 78689005 PYCR2-related microcephaly, progressive leukoencephalopathy 1237421000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 PYCR2-related microcephaly, progressive leukoencephalopathy 1237421000 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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