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764619001: Mosaic trisomy 15 syndrome (disorder)


Status: current, Defined. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3654206016 Trisomy 15 mosaicism en Synonym Active Case insensitive SNOMED CT core
3654207013 Mosaic trisomy 15 syndrome en Synonym Active Case insensitive SNOMED CT core
3654208015 Mosaic trisomy chromosome 15 en Synonym Active Case insensitive SNOMED CT core
3654209011 Mosaic trisomy 15 syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3654096019 A rare chromosomal anomaly syndrome with principle characteristics of intrauterine growth restriction, congenital cardiac anomalies (ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (hypoplastic cerebellum, ventricular asymmetry), renal (small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mosaic trisomy 15 syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Mosaic trisomy 15 syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Mosaic trisomy 15 syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Mosaic trisomy 15 syndrome Is a Anomaly of chromosome pair 15 true Inferred relationship Some
Mosaic trisomy 15 syndrome Is a Trisomy and partial trisomy of autosome true Inferred relationship Some
Mosaic trisomy 15 syndrome Associated morphology Trisomy true Inferred relationship Some 2
Mosaic trisomy 15 syndrome Occurrence Congenital true Inferred relationship Some 2
Mosaic trisomy 15 syndrome Finding site Chromosome pair 15 true Inferred relationship Some 2
Mosaic trisomy 15 syndrome Occurrence Congenital true Inferred relationship Some 1
Mosaic trisomy 15 syndrome Finding site Chromosome pair 15 true Inferred relationship Some 1
Mosaic trisomy 15 syndrome Associated morphology Chromosome mosaicism true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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