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30361005: 1q partial monosomy (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
4555235014 1q partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555236010 1q partial monosomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1991241000005116 partiel monosomi 1q-syndrom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
1q partial monosomy Is a Deletion of part of autosome false Inferred relationship Some
1q partial monosomy Is a Anomaly of chromosome pair 1 false Inferred relationship Some
1q partial monosomy Associated morphology Deletion of long arm false Inferred relationship Some
1q partial monosomy Occurrence Congenital false Inferred relationship Some
1q partial monosomy Finding site Sex chromosome false Inferred relationship Some
1q partial monosomy Finding site Chromosome pair 1 false Inferred relationship Some 2
1q partial monosomy Associated morphology kongenit anomali false Inferred relationship Some 2
1q partial monosomy Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Some 1
1q partial monosomy Finding site Chromosome pair 1 false Inferred relationship Some 1
1q partial monosomy Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Some
1q partial monosomy Associated morphology kongenit anomali false Inferred relationship Some
1q partial monosomy Occurrence Congenital true Inferred relationship Some 1
1q partial monosomy Finding site Chromosome pair 1 true Inferred relationship Some 1
1q partial monosomy Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
1q partial monosomy Occurrence Congenital true Inferred relationship Some 2
1q partial monosomy Associated morphology Deletion of long arm false Inferred relationship Some 2
1q partial monosomy Finding site Chromosome pair 1 false Inferred relationship Some 2
1q partial monosomy Is a Deletion of part of chromosome 1 (disorder) true Inferred relationship Some
1q partial monosomy Finding site Long arm of chromosome true Inferred relationship Some 2
1q partial monosomy Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
1q21.1 microdeletion Is a True 1q partial monosomy Inferred relationship Some
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. Is a True 1q partial monosomy Inferred relationship Some
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. Is a True 1q partial monosomy Inferred relationship Some
Medial deletion of long arm of chromosome 1 Is a True 1q partial monosomy Inferred relationship Some
Proximal deletion of long arm of chromosome 1 (disorder) Is a True 1q partial monosomy Inferred relationship Some
A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastroesophageal and urogenital anomalies. Is a True 1q partial monosomy Inferred relationship Some

This concept is not in any reference sets

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