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24786004: 7p partial monosomy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4571150017 7p partial monosomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4571151018 7p partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4470151000241110 monosomie partielle 7p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
7p partial monosomy (disorder) Is a Anomaly of chromosome pair 7 (disorder) false Inferred relationship Some
7p partial monosomy (disorder) Is a Deletion of part of autosome false Inferred relationship Some
7p partial monosomy (disorder) Finding site Sex chromosome false Inferred relationship Some
7p partial monosomy (disorder) Occurrence Congenital false Inferred relationship Some
7p partial monosomy (disorder) Finding site Chromosome pair 7 false Inferred relationship Some 1
7p partial monosomy (disorder) Associated morphology Deletion of short arm false Inferred relationship Some
7p partial monosomy (disorder) Associated morphology Monosomy false Inferred relationship Some
7p partial monosomy (disorder) Associated morphology anomalie congénitale false Inferred relationship Some 1
7p partial monosomy (disorder) Finding site Chromosome pair 7 false Inferred relationship Some 1
7p partial monosomy (disorder) Associated morphology anomalie congénitale false Inferred relationship Some
7p partial monosomy (disorder) Occurrence Congenital true Inferred relationship Some 1
7p partial monosomy (disorder) Finding site Chromosome pair 7 false Inferred relationship Some 1
7p partial monosomy (disorder) Associated morphology Deletion of short arm false Inferred relationship Some 1
7p partial monosomy (disorder) Occurrence Congenital true Inferred relationship Some 2
7p partial monosomy (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
7p partial monosomy (disorder) Finding site Chromosome pair 7 true Inferred relationship Some 2
7p partial monosomy (disorder) Is a Deletion of part of chromosome 7 (disorder) true Inferred relationship Some
7p partial monosomy (disorder) Is a Congenital malformation false Inferred relationship Some
7p partial monosomy (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
7p partial monosomy (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
7p partial monosomy (disorder) Associated morphology Deletion of short arm false Inferred relationship Some 2
7p partial monosomy (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
7p partial monosomy (disorder) Finding site Short arm of chromosome true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
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 True 7p partial monosomy (disorder) Inferred relationship Some
7p12-p14 deletion syndrome Is a True 7p partial monosomy (disorder) Inferred relationship Some
7p21.1 deletion syndrome Is a True 7p partial monosomy (disorder) Inferred relationship Some
Proximal deletion of short arm of chromosome 7 (disorder) Is a True 7p partial monosomy (disorder) Inferred relationship Some

This concept is not in any reference sets

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