THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 773554009
SNOMED CT code
| SNOMED code | 773554009 |
|---|---|
| name | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Congenital smallness 41086002 |
| Occurrence | Congenital 255399007 |
| Finding site | Head structure 69536005 |
| attributes - group2 | |
| Finding site | Face structure 89545001 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group3 | |
| Has interpretation | Below reference range 281300000 |
| Interprets | Birth head circumference 169876006 |
| 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 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 773554009 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital microcephaly 1148758003 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 773554009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 773554009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 773554009 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 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 773554009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 773554009 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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