Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome 765327005
SNOMED CT code
| SNOMED code | 765327005 |
|---|---|
| name | Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome |
| status | active |
| date introduced | 2018-07-31 |
| fully specified name(s) | Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder) |
| synonyms |
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| attributes - group5 | |
| Pathological process | Abnormal immune process 769247005 |
| attributes - group4 | |
| Due to | Chromosomal disorder 409709004 |
| attributes - group1 | |
| Has interpretation | Below reference range 281300000 |
| Interprets | Red blood cell count 14089001 |
| attributes - group3 | |
| Has interpretation | Below reference range 281300000 |
| Interprets | Measurement of total hemoglobin concentration 441689006 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Immune system structure 116003000 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Disorder of immune function 414029004 Immunodeficiency disorder 234532001 Primary immune deficiency disorder 58606001 Immunodeficiency associated with chromosomal abnormality 234632005 Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome 765327005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital immunodeficiency disease 36138009 Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome 765327005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of immune function 414029004 Hereditary disorder of immune system 363138005 Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome 765327005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of immune structure 414030009 Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome 765327005 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of blood, lymphatics and immune system 299691001 Disorder of cellular component of blood 414022008 Hereditary disorder of cellular element of blood 414393003 Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome 765327005 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of blood, lymphatics and immune system 299691001 Disorder of cellular component of blood 414022008 Anemia 271737000 Sideroblastic anemia 41841004 Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome 765327005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital anemia 63565007 Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome 765327005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome 765327005 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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