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36369001: 1p 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
4555211016 1p partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555212011 1p partial monosomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555213018 Partial deletion of the short arm of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4508021000241115 monosomie partielle 1p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3386831001000118 Chromosom 1p-Deletion, partielle de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
1p partial monosomy Is a Anomaly of chromosome pair 1 false Inferred relationship Some
1p partial monosomy Is a Deletion of part of autosome false Inferred relationship Some
1p partial monosomy Occurrence Congenital false Inferred relationship Some
1p partial monosomy Finding site Sex chromosome false Inferred relationship Some
1p partial monosomy Finding site Chromosome pair 1 false Inferred relationship Some 1
1p partial monosomy Associated morphology Deletion of short arm false Inferred relationship Some
1p partial monosomy Associated morphology anomalie congénitale false Inferred relationship Some 1
1p partial monosomy Finding site Chromosome pair 1 false Inferred relationship Some 1
1p partial monosomy Associated morphology anomalie congénitale false Inferred relationship Some
1p partial monosomy Occurrence Congenital true Inferred relationship Some 1
1p partial monosomy Finding site Chromosome pair 1 true Inferred relationship Some 1
1p partial monosomy Occurrence Congenital true Inferred relationship Some 2
1p partial monosomy Finding site Chromosome pair 1 false Inferred relationship Some 2
1p partial monosomy Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
1p partial monosomy Associated morphology Deletion of short arm false Inferred relationship Some 2
1p partial monosomy Is a Deletion of part of chromosome 1 (disorder) true Inferred relationship Some
1p partial monosomy Finding site Short arm of chromosome true Inferred relationship Some 2
1p partial monosomy Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. Is a True 1p partial monosomy Inferred relationship Some
Chromosome 1p36 deletion syndrome (disorder) Is a True 1p partial monosomy Inferred relationship Some
1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures. Is a True 1p partial monosomy Inferred relationship Some
Distal deletion of short arm of chromosome 1 (disorder) Is a True 1p partial monosomy Inferred relationship Some
Medial deletion of short arm of chromosome 1 Is a True 1p partial monosomy Inferred relationship Some
Proximal deletion of short arm of chromosome 1 Is a True 1p partial monosomy Inferred relationship Some
A rare chromosomal anomaly characterized by an intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia and a recognisable facial dysmorphism including prominent forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia. Is a True 1p partial monosomy Inferred relationship Some

This concept is not in any reference sets

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