Version 2.78

Descriptions

1p36 deletion syndrome is caused by the deletion of several genes in the short arm of chromosome 1 and is associated with severe cognitive delay, seizure disorder, weak muscle tone, swallowing difficulty, and distinctive facial features. The general population risk of 1p36 deletion is about 1 in 5,000 - 10,000 live births, and does not change with maternal age. Fetal risk of having 1p36 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [MedlinePlus Condition: 1p36-deletion-syndrome] Source: Regenstrief LOINC, GHR: 1p36 deletion syndrome

The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation. Source: Regenstrief LOINC

Basic Part Properties

Part Display Name
Comment on fetal 1p36 deletion risk
Part Type
Component (Describes the core component or analyte measured)
Created On
2014-09-26
Construct for LOINC Short Name
Fet 1p36 del risk comment

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP185994-3

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 关于胎儿 1p36 染色体缺失风险的遗传咨询师意见
Synonyms: 关于胎儿 1p36 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）（1p36 染色体缺失综合征、染色体 1p36 缺失症候群）风险（危险性、风险性、危险）的遗传咨询师（遗传病辅导员、基因咨询师、遗传谘询师、基因谘询师）意见（评论、解释、注释、注解、点评）;1p36 染色体缺失综合征;单体型 1p36;单体性 1p36 单体;1p36;1p36 deletion syndrome;monosomy 1p36
es-ES Spanish (Spain) Comentario de consejo genético en riesgo general de deleción 1p36
it-IT Italian (Italy) Commento su rischio delezione 1p36
tr-TR Turkish (Turkey) 1p36 delesyon riski genetik danışman önerisi