Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome 1172685001
SNOMED CT code
| SNOMED code | 1172685001 |
|---|---|
| name | Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome |
| status | active |
| date introduced | 2021-09-30 |
| fully specified name(s) | Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) |
| synonyms |
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| attributes - group3 | |
| Interprets | Hemostatic function 74848003 |
| Has interpretation | Abnormal 263654008 |
| attributes - group4 | |
| Interprets | Platelet count 61928009 |
| 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 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Limb structure 66019005 |
| Associated morphology | Lymphatic edema 30213001 |
| attributes - group6 | |
| Finding site | Body system structure 91689009 |
| attributes - group7 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group8 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| 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 Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome 1172685001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome 1172685001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome 1172685001 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Congenital anomaly of limb 60475009 Multiple malformation syndrome with facial-limb defects as major feature 23359005 Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome 1172685001 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Disorder of hemostatic system 362970003 Platelet disorder 22716005 Thrombocytopenic disorder 302215000 Megakaryocytic thrombocytopenia 234483004 Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome 1172685001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Primary lymphedema 1217009002 Hereditary lymphedema 254199006 Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome 1172685001 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Disorder of hemostatic system 362970003 Platelet disorder 22716005 Inherited platelet disorder 234469001 Hereditary thrombocytopenic disorder 438492008 Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome 1172685001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital thrombocytopenia 737221003 Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome 1172685001 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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