Prieto Badia Mulas syndrome 719140001
SNOMED CT code
| SNOMED code | 719140001 |
|---|---|
| name | Prieto Badia Mulas syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Cerebrum 83678007 |
| Associated morphology | Atrophy 13331008 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| Finding site | Limb structure 66019005 |
| 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 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Hereditary degenerative disease of central nervous system 106018006 Prieto Badia Mulas syndrome 719140001 SNOMED CT Concept 138875005 Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Prieto Badia Mulas syndrome 719140001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Sex-linked hereditary disorder 82852009 X-linked hereditary disease 128430005 X-linked recessive hereditary disease 1162976004 Prieto Badia Mulas syndrome 719140001 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Congenital anomaly of limb 60475009 Multiple malformation syndrome with facial-limb defects as major feature 23359005 Prieto Badia Mulas syndrome 719140001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Degenerative brain disorder 52522001 Cerebral degeneration 418143002 Cerebral atrophy 278849000 Prieto Badia Mulas syndrome 719140001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Prieto Badia Mulas syndrome 719140001 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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