Chromosome Xp11.3 microdeletion syndrome 719808002
SNOMED CT code
SNOMED code | 719808002 |
---|---|
name | Chromosome Xp11.3 microdeletion syndrome |
status | active |
date introduced | 2017-01-31 |
fully specified name(s) | Chromosome Xp11.3 microdeletion syndrome (disorder) |
synonyms |
|
attributes - group1 | |
Pathological process | Pathological developmental process 308490002 |
Occurrence | Congenital 255399007 |
Finding site | Short arm of chromosome 278145009 |
Associated morphology | Partial monosomy 371169004 |
attributes - group2 | |
Pathological process | Pathological developmental process 308490002 |
Associated morphology | Partial monosomy 371169004 |
Occurrence | Congenital 255399007 |
Finding site | Sex chromosome X 72837006 |
attributes - group3 | |
Finding site | Retinal structure 5665001 |
Associated morphology | Dystrophy 4720007 |
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 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Chromosome Xp11.3 microdeletion syndrome 719808002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 Anomaly of chromosome pair 362984008 Anomaly of sex chromosome 95462004 Anomaly of chromosome X 111312006 Chromosome Xp11.3 microdeletion syndrome 719808002 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 Chromosome Xp11.3 microdeletion syndrome 719808002 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 retinitis pigmentosa 232054005 Chromosome Xp11.3 microdeletion syndrome 719808002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Chromosome Xp11.3 microdeletion syndrome 719808002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Chromosome Xp11.3 microdeletion syndrome 719808002 |
ancestors | sorted most to least specific
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cpt crosswalks |
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