Keppen Lubinsky syndrome 1220589007
SNOMED CT code
| SNOMED code | 1220589007 |
|---|---|
| name | Keppen Lubinsky syndrome |
| status | active |
| date introduced | 2022-05-31 |
| fully specified name(s) | Keppen Lubinsky syndrome (disorder) |
| synonyms |
|
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Finding site | Subcutaneous fatty tissue 67769002 |
| Associated morphology | Dystrophy 4720007 |
| attributes - group3 | |
| Finding site | Skin structure 39937001 |
| attributes - group4 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Keppen Lubinsky syndrome 1220589007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of connective tissue 105969002 Connective tissue hereditary disorder 363045008 Keppen Lubinsky syndrome 1220589007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Keppen Lubinsky syndrome 1220589007 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 Premature aging syndrome 399959003 Keppen Lubinsky syndrome 1220589007 SNOMED CT Concept 138875005 Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Severe mental retardation (I.Q. 20-34) 40700009 Keppen Lubinsky syndrome 1220589007 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 Keppen Lubinsky syndrome 1220589007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Genetic lipodystrophy 724841000 Keppen Lubinsky syndrome 1220589007 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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