725911008: Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Developmental hereditary disorder\TARP syndrome
• \Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\TARP syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\TARP syndrome
• \Developmental disorder\Developmental hereditary disorder\TARP syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\TARP syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3446379012	Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3446380010	TARP syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3446381014	Pierre Robin sequence, congenital heart defect, talipes syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3446382019	Pierre Robin syndrome, congenital heart defect, talipes syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3446383012	TARP (talipes equinovarus, atrial septal defect, Robin sequence, persistence of left superior vena cava) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3446384018	A rare developmental defect during embryogenesis syndrome with characteristics of Robin sequence (micrognathia, glossoptosis, cleft palate), atrial septal defect, persistence of the left superior vena cava and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months. There is evidence this syndrome is caused by mutation in the RBM10 gene on chromosome Xp11.23.	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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