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19419002: 8p partial monosomy syndrome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
32716018 8p partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
747520019 8p partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4452591000241111 monosomie partielle 8p 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
8p partial monosomy syndrome Is a Anomaly of chromosome pair 8 false Inferred relationship Some
8p partial monosomy syndrome Is a Deletion of part of autosome false Inferred relationship Some
8p partial monosomy syndrome Associated morphology Monosomy false Inferred relationship Some
8p partial monosomy syndrome Associated morphology Deletion of short arm false Inferred relationship Some
8p partial monosomy syndrome Occurrence Congenital false Inferred relationship Some
8p partial monosomy syndrome Finding site Sex chromosome false Inferred relationship Some
8p partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Some 1
8p partial monosomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
8p partial monosomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some
8p partial monosomy syndrome Finding site Chromosome pair 8 false Inferred relationship Some 1
8p partial monosomy syndrome Occurrence Congenital true Inferred relationship Some 1
8p partial monosomy syndrome Finding site Chromosome pair 8 true Inferred relationship Some 1
8p partial monosomy syndrome Occurrence Congenital true Inferred relationship Some 2
8p partial monosomy syndrome Finding site Chromosome pair 8 true Inferred relationship Some 2
8p partial monosomy syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
8p partial monosomy syndrome Associated morphology Deletion of short arm true Inferred relationship Some 2
8p partial monosomy syndrome Is a Deletion of part of chromosome 8 (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. Is a True 8p partial monosomy syndrome Inferred relationship Some
8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. Is a True 8p partial monosomy syndrome Inferred relationship Some
Distal deletion of short arm of chromosome 8 (disorder) Is a True 8p partial monosomy syndrome Inferred relationship Some
Proximal deletion of short arm of chromosome 8 (disorder) Is a True 8p partial monosomy syndrome Inferred relationship Some

This concept is not in any reference sets

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