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733521003: Distal 16p11.2 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3499601015 Distal 16p11.2 microdeletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3499602010 Distal 16p11.2 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3499603017 Distal monosomy 16p11.2 en Synonym Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal 16p11.2 microdeletion syndrome Is a Deletion of part of short arm of chromosome 16 true Inferred relationship Existential restriction modifier
Distal 16p11.2 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Distal 16p11.2 microdeletion syndrome Finding site Chromosome pair 16 true Inferred relationship Existential restriction modifier 2
Distal 16p11.2 microdeletion syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 3
Distal 16p11.2 microdeletion syndrome Finding site Chromosome pair 16 false Inferred relationship Existential restriction modifier 3
Distal 16p11.2 microdeletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 2
Distal 16p11.2 microdeletion syndrome Associated morphology Deletion of short arm false Inferred relationship Existential restriction modifier 3
Distal 16p11.2 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Distal 16p11.2 microdeletion syndrome Is a Developmental delay true Inferred relationship Existential restriction modifier
Distal 16p11.2 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Distal 16p11.2 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Distal 16p11.2 microdeletion syndrome Finding site Short arm of chromosome true Inferred relationship Existential restriction modifier 1
Distal 16p11.2 microdeletion syndrome Is a Congenital malformation true Inferred relationship Existential restriction modifier
Distal 16p11.2 microdeletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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