770754006: 2p21 microdeletion syndrome without cystinuria (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Developmental hereditary disorder\2p21 microdeletion syndrome without cystinuria
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\2p21 microdeletion syndrome without cystinuria
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 2\Deletion of part of short arm of chromosome 2\2p21 microdeletion syndrome without cystinuria
• \Anomaly of chromosome pair 2\Deletion of part of chromosome 2\Deletion of part of short arm of chromosome 2\2p21 microdeletion syndrome without cystinuria
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\2p21 microdeletion syndrome without cystinuria
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 2\Deletion of part of short arm of chromosome 2\2p21 microdeletion syndrome without cystinuria
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Deletion of part of chromosome 2\Deletion of part of short arm of chromosome 2\2p21 microdeletion syndrome without cystinuria
• \Developmental disorder\Developmental hereditary disorder\2p21 microdeletion syndrome without cystinuria
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\2p21 microdeletion syndrome without cystinuria

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702465012	2p21 microdeletion syndrome without cystinuria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3702466013	2p21 microdeletion syndrome without cystinuria	en	Synonym	Active	Case insensitive	SNOMED CT core
3702467016	A rare partial autosomal monosomy with characteristics of weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.	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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