TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome 1222708006
SNOMED CT code
| SNOMED code | 1222708006 |
|---|---|
| name | TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome |
| status | active |
| date introduced | 2022-05-31 |
| fully specified name(s) | Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Heart structure 80891009 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Finding site | Hair structure 386045008 |
| Associated morphology | Growth alteration 57697001 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Cardiovascular finding 106063007 Cardiac finding 301095005 Heart disease 56265001 Structural disorder of heart 128599005 Congenital heart disease 13213009 TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome 1222708006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome 1222708006 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Skin finding 106076001 Hair finding 247522004 Disorder of hair 279425004 Disorder of hair growth 267808001 Hypertrichosis 29966009 TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome 1222708006 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Disorder of cardiovascular system 49601007 Cardiovascular system hereditary disorder 363005004 TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome 1222708006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome 1222708006 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome 1222708006 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 TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome 1222708006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome 1222708006 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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