Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome 1217229007
SNOMED CT code
| SNOMED code | 1217229007 |
|---|---|
| name | Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
| status | active |
| date introduced | 2022-04-30 |
| fully specified name(s) | Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Bone structure of cranium 89546000 |
| Associated morphology | Dysplasia 25723000 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Bone structure of face 91397008 |
| Associated morphology | Dysplasia 25723000 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Ectoderm structure 63206006 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Interprets | Body height 1153637007 |
| Has interpretation | Below reference range 281300000 |
| attributes - group5 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| Interprets | Intellectual ability 247573007 |
| 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 Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome 1217229007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of skull 118945008 Congenital anomaly of skull 51655004 Dysostosis of bone of skull 128219005 Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome 1217229007 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome 1217229007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of embryonic structure 609521009 Congenital ectodermal defect 254154003 Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome 1217229007 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Bone finding 118953000 Facial bone finding 248398006 Disorder of facial bone 128225009 Congenital anomaly of face bones 32003007 Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome 1217229007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome 1217229007 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome 1217229007 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 Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome 1217229007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of face 118930001 Lesion of face 767811005 Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome 1217229007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome 1217229007 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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