Syndromic X-linked intellectual disability due to JARID1C mutation 719161008
SNOMED CT code
SNOMED code | 719161008 |
---|---|
name | Syndromic X-linked intellectual disability due to JARID1C mutation |
status | active |
date introduced | 2017-01-31 |
fully specified name(s) | Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) |
synonyms |
|
attributes - group1 | |
Occurrence | Congenital 255399007 |
Associated morphology | Morphologically abnormal structure 49755003 |
Pathological process | Pathological developmental process 308490002 |
attributes - group2 | |
Interprets | Intellectual ability 247573007 |
Has interpretation | Impaired 260379002 |
attributes - group3 | |
Interprets | Adaptation behavior 406208005 |
Has interpretation | Impaired 260379002 |
parents |
|
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 Syndromic X-linked intellectual disability due to JARID1C mutation 719161008 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 Syndromic X-linked intellectual disability due to JARID1C mutation 719161008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Syndromic X-linked intellectual disability due to JARID1C mutation 719161008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Syndromic X-linked intellectual disability due to JARID1C mutation 719161008 |
ancestors | sorted most to least specific
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cpt crosswalks |
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