Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome 720982007
SNOMED CT code
| SNOMED code | 720982007 |
|---|---|
| name | Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) |
| synonyms |
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| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Deletion of long arm 64329008 |
| Finding site | Sex chromosome X 72837006 |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Glomerulus structure 68288006 |
| Associated morphology | Chronic inflammatory morphology 409777003 |
| attributes - group7 | |
| Interprets | Red blood cell count 14089001 |
| Has interpretation | Below reference range 281300000 |
| attributes - group9 | |
| Occurrence | Congenital 255399007 |
| Finding site | Erythrocyte 41898006 |
| Associated morphology | Elliptocyte 45028007 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group8 | |
| Has interpretation | Below reference range 281300000 |
| Interprets | Measurement of total hemoglobin concentration 441689006 |
| attributes - group6 | |
| Interprets | Hemolysis 404227002 |
| Has interpretation | Present 52101004 |
| attributes - group4 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
|
| 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 Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome 720982007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 Anomaly of chromosome pair 362984008 Anomaly of sex chromosome 95462004 Anomaly of chromosome X 111312006 Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome 720982007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Sex-linked hereditary disorder 82852009 X-linked hereditary disease 128430005 Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome 720982007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Hereditary elliptocytosis 191169008 Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome 720982007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital nephritis 276585000 Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome 720982007 SNOMED CT Concept 138875005 Clinical finding 404684003 Viscus structure finding 406123005 Abdominal organ finding 249561001 Kidney finding 249578005 Kidney disease 90708001 Hereditary nephropathy 367591000119105 Hereditary nephritis 399340005 Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome 720982007 SNOMED CT Concept 138875005 Clinical finding 404684003 Viscus structure finding 406123005 Abdominal organ finding 249561001 Kidney finding 249578005 Kidney disease 90708001 Congenital anomaly of the kidney 44513007 Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome 720982007 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 Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome 720982007 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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