782674007: Distal monosomy 7p syndrome (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\...

\Congenital malformation\A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.

\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 7 (disorder)\7p partial monosomy (disorder)\A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.

\Anomaly of chromosome pair 7\Deletion of part of chromosome 7 (disorder)\7p partial monosomy (disorder)\A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.

\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 7 (disorder)\7p partial monosomy (disorder)\A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.

\Anomaly of chromosome pair 7\Deletion of part of chromosome 7 (disorder)\7p partial monosomy (disorder)\A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.

\Developmental disorder\Congenital malformation\A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3755109013 A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3755105019 Telomeric deletion 7p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3755106018 Distal deletion 7p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3755108017 Distal monosomy 7p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4571147015 Distal monosomy 7p syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4571148013 Distal monosomy 7p syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.	Finding site	Chromosome pair 7	true	Inferred relationship	Some	1
A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.	Occurrence	Congenital	true	Inferred relationship	Some	2
A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.	Finding site	Chromosome pair 7	false	Inferred relationship	Some	2
A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.	Is a	7p partial monosomy (disorder)	true	Inferred relationship	Some
A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	2
A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.	Occurrence	Congenital	true	Inferred relationship	Some	1
A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.	Finding site	Short arm of chromosome	true	Inferred relationship	Some	2
A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.	Is a	Congenital malformation	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
7p21.1 deletion syndrome	Is a	False	A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.	Inferred relationship	Some

This concept is not in any reference sets