Developmental delay, facial dysmorphism syndrome due to MED13L deficiency 787093004
SNOMED CT code
| SNOMED code | 787093004 |
|---|---|
| name | Developmental delay, facial dysmorphism syndrome due to MED13L deficiency |
| status | active |
| date introduced | 2019-07-31 |
| fully specified name(s) | Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) |
| synonyms |
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| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group2 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group3 | |
| 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 Developmental delay, facial dysmorphism syndrome due to MED13L deficiency 787093004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Developmental delay, facial dysmorphism syndrome due to MED13L deficiency 787093004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Developmental delay, facial dysmorphism syndrome due to MED13L deficiency 787093004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Developmental delay, facial dysmorphism syndrome due to MED13L deficiency 787093004 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 Developmental delay, facial dysmorphism syndrome due to MED13L deficiency 787093004 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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