Martsolf syndrome 722380003
SNOMED CT code
| SNOMED code | 722380003 |
|---|---|
| name | Martsolf syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Lens clear 78076003 |
| Associated morphology | Opacity 128305008 |
| Occurrence | Congenital 255399007 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Structure of distal part of pituitary 52618001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| Finding site | Gonadal endocrine structure 304041004 |
| 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 Disease 64572001 Disorder of body system 362965005 Disorder of endocrine system 362969004 Disorder of pituitary gland 399244003 Disorder of anterior pituitary 51742006 Congenital malformation of anterior pituitary 254255007 Martsolf syndrome 722380003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of endocrine system 362969004 Hereditary disorder of endocrine system 363104002 Martsolf syndrome 722380003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital anomaly of endocrine gland 4184009 Congenital anomaly of endocrine gonad 371118004 Martsolf syndrome 722380003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital hypogonadotropic hypogonadism 722944006 Martsolf syndrome 722380003 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 RAB18 deficiency 772225005 Martsolf syndrome 722380003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disorder of eye 62585004 Cataract 193570009 Congenital cataract 79410001 Martsolf syndrome 722380003 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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