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699305004: 1q21.1 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2983579010 Chromosome 1q21.1 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983615017 1q21.1 contiguous gene deletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983705015 1q21.1 microdeletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3015049014 Microdeletion of chromosome 1q21.1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555237018 1q21.1 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555239015 1q21.1 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
1q21.1 microdeletion Is a Anomaly of chromosome pair 1 false Inferred relationship Some
1q21.1 microdeletion Occurrence Congenital false Inferred relationship Some
1q21.1 microdeletion Associated morphology Congenital anomaly false Inferred relationship Some
1q21.1 microdeletion Associated morphology Deletion of long arm false Inferred relationship Some
1q21.1 microdeletion Occurrence Congenital true Inferred relationship Some 1
1q21.1 microdeletion Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
1q21.1 microdeletion Finding site Chromosome pair 1 false Inferred relationship Some 1
1q21.1 microdeletion Occurrence Congenital true Inferred relationship Some 2
1q21.1 microdeletion Finding site Chromosome pair 1 true Inferred relationship Some 2
1q21.1 microdeletion Is a 1q partial monosomy true Inferred relationship Some
1q21.1 microdeletion Occurrence Congenital false Inferred relationship Some 3
1q21.1 microdeletion Finding site Chromosome pair 1 false Inferred relationship Some 3
1q21.1 microdeletion Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
1q21.1 microdeletion Associated morphology Deletion of long arm false Inferred relationship Some 3
1q21.1 microdeletion Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
1q21.1 microdeletion Finding site Long arm of chromosome true Inferred relationship Some 1
1q21.1 microdeletion Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
1q21.1 microdeletion Is a Congenital malformation true Inferred relationship Some
1q21.1 microdeletion Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

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