766051001: Distal trisomy 17q syndrome (disorder)

SNOMED CT Concept\Clinical finding\Disease\...

\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\Distal trisomy 17q syndrome
\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\Distal trisomy 17q syndrome
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17\17q partial trisomy syndrome\Distal trisomy 17q syndrome
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\Distal trisomy 17q syndrome

\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17\17q partial trisomy syndrome\Distal trisomy 17q syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\Distal trisomy 17q syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3660631018 Distal duplication 17q en Synonym Active Only initial character case insensitive SNOMED CT core module

3660632013 Telomeric duplication 17q en Synonym Active Only initial character case insensitive SNOMED CT core module

3660633015 Distal trisomy 17q en Synonym Active Only initial character case insensitive SNOMED CT core module

3660645012 Distal trisomy 17q syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

3660646013 Distal trisomy 17q syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal trisomy 17q syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	1
Distal trisomy 17q syndrome	Finding site	Chromosome pair 17	true	Inferred relationship	Existential restriction modifier	1
Distal trisomy 17q syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Distal trisomy 17q syndrome	Is a	17q partial trisomy syndrome	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
17q24-qter duplication syndrome	Is a	True	Distal trisomy 17q syndrome	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets