FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

27183007: Anomaly of chromosome pair 14 (disorder)

Status: current, Defined. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
45457017 Anomaly of chromosome pair 14 en Synonym Active Case insensitive SNOMED CT core
757721014 Anomaly of chromosome pair 14 (disorder) en Fully specified name Active Case insensitive SNOMED CT core

25 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Anomaly of chromosome pair 14 Is a Anomaly of sex chromosome false Inferred relationship Some
Anomaly of chromosome pair 14 Is a Anomaly of chromosome pair true Inferred relationship Some
Anomaly of chromosome pair 14 Associated morphology Congenital anomaly false Inferred relationship Some 1
Anomaly of chromosome pair 14 Associated morphology Congenital anomaly false Inferred relationship Some
Anomaly of chromosome pair 14 Finding site Chromosome pair 14 false Inferred relationship Some 1
Anomaly of chromosome pair 14 Occurrence Congenital true Inferred relationship Some 1
Anomaly of chromosome pair 14 Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Some 1
Anomaly of chromosome pair 14 Finding site Chromosome pair 14 true Inferred relationship Some 1
Anomaly of chromosome pair 14 Associated morphology Alteration of chromosome structure false Inferred relationship Some
Anomaly of chromosome pair 14 Finding site Sex chromosome false Inferred relationship Some
Anomaly of chromosome pair 14 Occurrence Congenital false Inferred relationship Some
Anomaly of chromosome pair 14 Finding site Chromosome pair 14 false Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Maternal uniparental disomy of chromosome 14 Is a True Anomaly of chromosome pair 14 Inferred relationship Some
Paternal uniparental disomy of chromosome 14 Is a True Anomaly of chromosome pair 14 Inferred relationship Some
Ring chromosome 14 syndrome Is a True Anomaly of chromosome pair 14 Inferred relationship Some
Complete trisomy 14 syndrome Is a False Anomaly of chromosome pair 14 Inferred relationship Some
14q partial trisomy Is a False Anomaly of chromosome pair 14 Inferred relationship Some
14q11.2 microdeletion syndrome Is a False Anomaly of chromosome pair 14 Inferred relationship Some
14q12 microdeletion syndrome Is a False Anomaly of chromosome pair 14 Inferred relationship Some
Deletion of part of chromosome 14 Is a True Anomaly of chromosome pair 14 Inferred relationship Some
Partial trisomy of chromosome 14 Is a True Anomaly of chromosome pair 14 Inferred relationship Some
Mosaic trisomy 14 Is a True Anomaly of chromosome pair 14 Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start