771072001: Monosomy 9p (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 9\Monosomy 9p
• \Anomaly of chromosome pair 9\Deletion of part of chromosome 9\Monosomy 9p
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 9\Monosomy 9p
• \Anomaly of chromosome pair 9\Deletion of part of chromosome 9\Monosomy 9p

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3704188015	Monosomy 9p	en	Synonym	Active	Case insensitive	SNOMED CT core
3704189011	9p deletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3704190019	Monosomy 9p (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3704191015	Alfi syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3704192010	A rare chromosomal anomaly with characteristics of 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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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