MacDermot Winter syndrome 716023007
SNOMED CT code
| SNOMED code | 716023007 |
|---|---|
| name | MacDermot Winter syndrome |
| status | active |
| date introduced | 2016-07-31 |
| fully specified name(s) | Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Finding site | Gonadal structure 43174007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Congenital smallness 41086002 |
| Occurrence | Congenital 255399007 |
| Finding site | Head structure 69536005 |
| attributes - group3 | |
| Finding site | Structure of glabella 51136003 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group4 | |
| Has interpretation | Below reference range 281300000 |
| Interprets | Birth head circumference 169876006 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital microcephaly 1148758003 MacDermot Winter syndrome 716023007 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of trunk structure 302292003 Finding of abdominopelvic segment of trunk 822987005 Urogenital finding 118238000 Genital finding 300479008 Congenital malformation of genital organs 204821009 Gonadal dysgenesis 205681004 MacDermot Winter syndrome 716023007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 MacDermot Winter syndrome 716023007 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 MacDermot Winter syndrome 716023007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Hereditary disorder by system 363137000 Reproductive system hereditary disorder 363290007 MacDermot Winter syndrome 716023007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of face 118930001 Congenital anomaly of face 398302004 MacDermot Winter syndrome 716023007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 MacDermot Winter syndrome 716023007 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of head and neck region 118254002 Head finding 406122000 Finding of head region 298364001 Congenital anomaly of frontal bone 93004007 MacDermot Winter syndrome 716023007 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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