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726379004: Deletion of part of chromosome 9 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3448827010 Deletion of part of chromosome 9 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448828017 Deletion of part of chromosome 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448827010 Deletion of part of chromosome 9 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448828017 Deletion of part of chromosome 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5876081000241119 délétion d'une partie du chromosome 9 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5876091000241117 délétion partielle du chromosome 9 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5876081000241119 délétion d'une partie du chromosome 9 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5876091000241117 délétion partielle du chromosome 9 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

14 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of chromosome 9 (disorder) Is a Anomaly of chromosome pair 9 true Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 9 (disorder) Is a Deletion of part of autosome true Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 9 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 9 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 9 (disorder) Finding site Chromosome pair 9 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
9q partial monosomy syndrome (disorder) Is a True Deletion of part of chromosome 9 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
9p partial monosomy syndrome Is a False Deletion of part of chromosome 9 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
9p13 microdeletion syndrome (disorder) Is a True Deletion of part of chromosome 9 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 9p syndrome (disorder) Is a True Deletion of part of chromosome 9 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. Is a True Deletion of part of chromosome 9 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Proximal deletion of short arm of chromosome 9 Is a True Deletion of part of chromosome 9 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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