766050000: Distal monosomy 15q syndrome (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 15\...
• \Partial deletion of long arm of chromosome 15\Distal monosomy 15q
• \Distal deletion of chromosome 15\Distal monosomy 15q
• \Anomaly of chromosome pair 15\Deletion of part of chromosome 15\...
• \Partial deletion of long arm of chromosome 15\Distal monosomy 15q
• \Distal deletion of chromosome 15\Distal monosomy 15q
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal monosomy 15q
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 15\Partial deletion of long arm of chromosome 15\Distal monosomy 15q
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 15\Distal deletion of chromosome 15\Distal monosomy 15q
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Deletion of part of chromosome 15\Partial deletion of long arm of chromosome 15\Distal monosomy 15q
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Deletion of part of chromosome 15\Distal deletion of chromosome 15\Distal monosomy 15q
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal monosomy 15q

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3660618011	Distal 15q deletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3660619015	Monosomy 15q26	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3660620014	Distal monosomy 15q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3660622018	15q26 deletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3660623011	Telomeric 15q deletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3660626015	Distal monosomy 15q syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3660627012	Distal monosomy 15q syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3660624017	A rare chromosomal anomaly syndrome characterized by pre and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (for example brachy/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation and autistic spectrum disorder have also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core
3660625016	A rare chromosomal anomaly syndrome characterised by pre and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (for example brachy/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphoedema, heart malformations, aplasia cutis congenita, aortic root dilatation and autistic spectrum disorder have also been reported.	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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