763405000: Ring chromosome 15 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\...
• \Ring chromosome\Ring chromosome 15 syndrome
• \Anomaly of chromosome pair\Anomaly of chromosome pair 15\Ring chromosome 15 syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ring chromosome 15 syndrome
• \Congenital disease\Congenital chromosomal disease\Ring chromosome\Ring chromosome 15 syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Ring chromosome 15 syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ring chromosome 15 syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3642119016	Ring chromosome 15 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3642120010	Ring chromosome 15 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3642121014	Ring chromosome 15	en	Synonym	Active	Case insensitive	SNOMED CT core
3642122019	A rare chromosomal anomaly syndrome with a highly variable phenotype. The syndrome has characteristics of pre and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).	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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