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782674007: Distal monosomy 7p syndrome (disorder)

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
5405632013 Distal monosomy 7p is a partial autosomal monosomy characterized by 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
5405633015 Distal monosomy 7p is a partial autosomal monosomy characterised by 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
5590381000241111 monosomie distale 7p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3397201001000111 Monosomie 7p, distale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal monosomy 7p is a partial autosomal monosomy characterized by 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
Distal monosomy 7p is a partial autosomal monosomy characterized by 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
Distal monosomy 7p is a partial autosomal monosomy characterized by 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
Distal monosomy 7p is a partial autosomal monosomy characterized by 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
Distal monosomy 7p is a partial autosomal monosomy characterized by 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
Distal monosomy 7p is a partial autosomal monosomy characterized by 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
Distal monosomy 7p is a partial autosomal monosomy characterized by 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
Distal monosomy 7p is a partial autosomal monosomy characterized by 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
Distal monosomy 7p is a partial autosomal monosomy characterized by 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
Distal monosomy 7p is a partial autosomal monosomy characterized by 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
Distal monosomy 7p is a partial autosomal monosomy characterized by 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
Distal monosomy 7p is a partial autosomal monosomy characterized by 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 Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis. Inferred relationship Some

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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